CDKL5 deficiency disorder is a rare genetic disorder associated with severe neurodevelopmental disability. It is characterized by early-onset epilepsy, developmental delay, intellectual disability, and hand stereotypies. The disorder is caused by variants in the CDKL5 gene located on the X chromosome.

CDKL5 deficiency disorder affects mainly girls and has an estimated frequency of 1 in 40,000 to 60,000 live births. The disorder was first described in 2000 by Renate Fehr and colleagues. Since then, more information about the disorder has been published in scientific articles and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

The CDKL5 gene plays a crucial role in the development and function of neurons in the central nervous system. Variants in this gene result in the production of a non-functional or partially functional CDKL5 protein, leading to abnormal brain development and the associated neurological symptoms.

Patient advocacy groups and other resources offer support and information for families affected by CDKL5 deficiency disorder. Clinical trials can provide additional opportunities for patients to access new treatments and therapies. The clinicaltrials.gov website is a valuable resource for finding and learning about active clinical trials related to CDKL5 deficiency disorder.

Frequency

CDKL5 deficiency disorder is a rare genetic condition that affects approximately 1 in 40,000 to 1 in 60,000 individuals. It is more common in females, with about 80% of affected individuals being female. The disorder is characterized by severe neurodevelopmental disabilities, including intellectual disability, epilepsy, and motor impairments.

Episodes of epileptic seizures are a prominent feature of CDKL5 deficiency disorder. These seizures typically begin in the first few months of life, with an average onset at around 3 months of age. The seizures can be difficult to control and may require multiple medications or other interventions.

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Studies by researchers like Wong and Helbig have shown that CDKL5 deficiency disorder is caused by mutations in the CDKL5 gene. This gene provides instructions for making a protein that is important for the normal function of neurons in the brain. When this gene is mutated, it disrupts the normal development and function of these neurons, leading to the characteristics of CDKL5 deficiency disorder.

Research on CDKL5 deficiency disorder is ongoing, and scientists are constantly learning more about the condition. The CDKL5 Disorder International Registry, managed by the National Organization for Rare Disorders (NORD), is a valuable resource for information on the disorder. Additional information can also be found in scientific articles and genetic databases such as OMIM and GeneReviews.

CDKL5 deficiency disorder is often misdiagnosed or underdiagnosed, and many individuals with the condition may go undiagnosed for years. The CDKL5 Center of Excellence at the Epilepsy Genetics Program in Boston is one of the leading centers for diagnosing and treating CDKL5 deficiency disorder.

Inheritance of CDKL5 deficiency disorder follows an X-linked dominant pattern, meaning that the condition can be passed on by either the mother or the father. However, most cases of CDKL5 deficiency disorder are caused by de novo mutations, which means they occur spontaneously in the affected individual and are not inherited from either parent.

Genetic testing is available to confirm a diagnosis of CDKL5 deficiency disorder. This testing looks for mutations in the CDKL5 gene and can provide valuable information for patients and their families. It can also help in identifying other family members who may be at risk of having the condition.

There are currently no FDA-approved treatments specifically for CDKL5 deficiency disorder. However, there are clinical trials and research studies investigating potential treatments, and new therapies are being developed. ClinicalTrials.gov is a helpful resource for finding information on ongoing clinical trials for CDKL5 deficiency disorder.

In summary, CDKL5 deficiency disorder is a rare genetic condition characterized by severe neurodevelopmental disabilities and epileptic seizures. It affects approximately 1 in 40,000 to 1 in 60,000 individuals, with a higher prevalence in females. Ongoing research and genetic testing are providing more information about the condition, and clinical trials are investigating new treatments. Resources such as NORD, OMIM, and GeneReviews are valuable sources of information and support for patients and their families.

Causes

CDKL5 deficiency disorder (CDD) is a rare genetic disorder caused by mutations in the CDKL5 gene. The CDKL5 gene is located on the X chromosome and provides instructions for making a protein that is essential for the normal development and function of neurons in the brain.

The CDKL5 gene mutations can be inherited from a carrier mother, or they can arise spontaneously (de novo mutations) in affected individuals with no family history of the disorder. The frequency of CDKL5 mutations in the general population is estimated to be around 1 in 40,000 to 60,000 individuals.

CDKL5 deficiency disorder is primarily associated with severe neurodevelopmental and neurological disabilities. The symptoms and severity can vary widely between affected individuals, but common features include early-onset seizures, intellectual disability, impaired motor function, and language regression.

Research and clinical studies have shown that CDKL5 mutations can cause a wide range of clinical manifestations beyond the core features of CDKL5 deficiency disorder. These include additional epilepsy syndromes, such as early infantile epileptic encephalopathy and Lennox-Gastaut syndrome, as well as a broader spectrum of neurodevelopmental disorders.

Other genetic variants or mutations in genes associated with CDKL5 deficiency disorder can also cause similar clinical features. For example, MECP2 mutations have been associated with a similar disorder called Rett syndrome. CDKL5-related disorders are now recognized as distinct clinical entities within the spectrum of epileptic encephalopathies.

There are several resources available for patients, families, and researchers to learn more about CDKL5 deficiency disorder and its associated causes. These include the CDKL5 Deficiency Disorder International Registry, which collects clinical information on affected individuals, and the International CDKL5 Centers of Excellence, which provide comprehensive care for patients with CDKL5 deficiency disorder.

Additional support can be found through advocacy organizations such as the CDKL5 Alliance, which provides resources and information for families, as well as funding for research and clinical trials.

References:

1. Demarest S, et al. CDKL5 deficiency disorder: Insights into pathogenesis and treatment.
2. Fehr S, et al. The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.
3. Helbig KL, et al. Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
4. Wong VC. CDKL5-related disorders: From clinical description to molecular genetics.

Learn more about the gene associated with CDKL5 deficiency disorder

CDKL5 deficiency disorder is a rare genetic condition that primarily affects females. It is caused by mutations in the CDKL5 gene, which is located on the X chromosome. Inheritance of CDKL5 deficiency disorder follows an X-linked pattern, meaning that each parent contributes one copy of the gene to their child.

The CDKL5 gene plays a crucial role in the development and function of neurons in the central nervous system. When this gene is mutated or nonfunctional, it can lead to severe neurological symptoms, including early-onset epilepsy, intellectual disability, and developmental delays.

Research on CDKL5 deficiency disorder and the associated gene is still ongoing. Many studies aim to better understand the function of the CDKL5 gene and the specific mechanisms through which its mutations cause the disorder. By studying affected patients and their families, scientists hope to uncover additional information about the gene and its role in normal brain development.

To learn more about the gene associated with CDKL5 deficiency disorder, you can refer to scientific articles and resources from national and central research centers. The National Center for Biotechnology Information’s Gene database, known as Gene, provides comprehensive information on genes, including CDKL5. Epilepsia, a scientific journal, also publishes articles and studies related to CDKL5 deficiency disorder and other genetic epileptic disorders.

Support and advocacy organizations focused on CDKL5 deficiency disorder can also provide resources and information about the gene. The CDKL5 Alliance and CDKL5 UK are two such organizations that offer support to affected individuals and their families, as well as funding for research and clinical trials.

If you suspect that you or a family member may have CDKL5 deficiency disorder, genetic testing can be carried out to confirm the diagnosis. Testing for mutations in the CDKL5 gene can be done through specialized laboratories and clinics, and it can help guide treatment options and provide information about the prognosis.

Overall, learning more about the gene associated with CDKL5 deficiency disorder is crucial for understanding the causes of the condition and developing targeted therapies for affected individuals. Ongoing research and resources from scientific and advocacy organizations contribute to advancements in our knowledge and support for those affected by this rare disorder.

Inheritance

CDKL5 deficiency disorder is a rare genetic condition characterized by severe neurodevelopmental disability and early-onset epilepsy. It is caused by mutations in the CDKL5 gene, which is located on the X chromosome.

The condition is typically inherited in an X-linked dominant manner, which means that a mutation in one copy of the CDKL5 gene is sufficient to cause the disorder. However, in some cases, CDKL5 deficiency disorder may occur sporadically, without a family history of the condition.

CDKL5 deficiency disorder has been associated with a wide range of mutations in the CDKL5 gene. These mutations can result in the loss or alteration of CDKL5 protein function, leading to abnormal development and function of neurons in the central nervous system.

The clinical features of CDKL5 deficiency disorder can vary widely among affected individuals. The disorder is characterized by early-onset seizures, typically starting within the first few months of life. The seizures are often treatment-resistant and can be associated with other types of epileptic activity, such as twitching or jerking movements of the arms and legs.

In addition to epilepsy, individuals with CDKL5 deficiency disorder may also have severe developmental delay and intellectual disability. They may have difficulties with motor skills, such as sitting, crawling, or walking, and may have problems with speech and communication. Some individuals may also have a characteristic hand-wringing or hand-washing behavior.

CDKL5 deficiency disorder is considered a rare condition, with an estimated frequency of 1 in 40,000 to 1 in 60,000 live births. However, it is possible that the disorder is underdiagnosed, and the true frequency may be higher.

Diagnosis of CDKL5 deficiency disorder is typically made based on clinical features and confirmed by genetic testing. Genetic testing can identify mutations in the CDKL5 gene, allowing for a definitive diagnosis.

There is currently no cure for CDKL5 deficiency disorder, and treatment is focused on managing symptoms and improving quality of life. This may involve a combination of antiepileptic medications, behavioral and educational interventions, and supportive care.

Research on CDKL5 deficiency disorder is ongoing, with a focus on understanding the underlying genetic and neurobiological mechanisms of the condition. Clinical trials and other research studies are actively recruiting patients to further our understanding and develop potential treatments for the disorder.

For additional information and resources on CDKL5 deficiency disorder, the following websites and organizations may be helpful:

• The CDKL5 Deficiency Disorder Foundation (www.cdkl5.com)
• The International CDKL5 Disorder Database (www.cdkl5.com/icdd)
• Online Mendelian Inheritance in Man (OMIM) (www.omim.org)
• ClinicalTrials.gov (www.clinicaltrialsgov)
• PubMed (pubmed.ncbi.nlm.nih.gov)

These resources provide valuable information on the genetics, clinical features, and management of CDKL5 deficiency disorder, as well as ongoing research and clinical trials.

Other Names for This Condition

CDKL5 deficiency disorder is known by various other names. Some of the more common variants include:

• CDKL5-related disorder
• CDKL5-related epileptic encephalopathy
• Early-onset seizure and severe developmental delay syndrome
• X-linked infantile spasm syndrome
• CEP290-related disorder

These names reflect different aspects of the condition and highlight specific characteristics or causes associated with CDKL5 deficiency disorder.

Research and studies have helped uncover additional information about this condition. Some of the associated studies include those by Helbig et al. and Fehr et al. These studies have focused on the clinical features, genetic mutations, and functional testing associated with CDKL5 deficiency disorder. They have contributed significantly to our understanding of the condition and its impact on affected individuals.

Epilepsia and Wong et al. have published articles on CDKL5 deficiency disorder, which provide further insights into the clinical presentation, causes, and management of the condition. These articles serve as valuable resources for healthcare professionals, researchers, and advocacy groups seeking to learn more about CDKL5 deficiency disorder.

In addition to clinical research, there are various resources available to support patients and families affected by CDKL5 deficiency disorder. The ClinicalTrials.gov website provides information on active clinical trials related to CDKL5 deficiency disorder, offering prospects for participation in research and potential treatment options.

The National Institutes of Health’s Genetic and Rare Diseases Information Center (GARD) and the Online Mendelian Inheritance in Man (OMIM) database are sources of comprehensive information on CDKL5 deficiency disorder, including its symptoms, causes, inheritance pattern, and available genetic testing options.

The Demarest Family Foundation CDKL5 Research and Patient Support website and the CDKL5 Disorder International Registry offer additional resources and support for individuals and families affected by CDKL5 deficiency disorder. These organizations provide a platform for connecting with other families, accessing information and educational materials, and participating in advocacy efforts aimed at raising awareness and advancing research on CDKL5 deficiency disorder.

Overall, the various names, resources, and studies associated with CDKL5 deficiency disorder help to shed light on the complexity of the condition and contribute to ongoing efforts to improve the lives of affected individuals and their families.

Additional Information Resources

CDKL5 deficiency disorder is a rare genetic disorder that affects the function of neurons in the brain. It is caused by mutations in the CDKL5 gene, which is located on the X chromosome. CDKL5 deficiency disorder is characterized by severe developmental delay and intellectual disability, as well as other symptoms such as epileptic seizures, hand stereotypies (repetitive movements), and limited or absent speech.

If you are interested in learning more about CDKL5 deficiency disorder, the following resources may be helpful:

• The CDKL5 Disorder – The CDKL5 Disorder is a nonprofit organization dedicated to raising awareness and supporting research for CDKL5 deficiency disorder. Their website provides information about the disorder, as well as resources for families affected by it. Visit their website at: www.cdkl5.com
• Scientific Articles and Research – There have been numerous scientific studies and research articles published on CDKL5 deficiency disorder. These articles can provide more in-depth information about the disorder and its genetic causes. You can find these articles on PubMed, a comprehensive database of scientific literature. Search for “CDKL5 deficiency disorder” or related keywords on PubMed to access these resources.
• Clinical Trials – Clinical trials are research studies that evaluate the safety and effectiveness of new treatments for various disorders, including CDKL5 deficiency disorder. You can search for ongoing clinical trials related to CDKL5 deficiency disorder on ClinicalTrials.gov, a database of clinical trials conducted around the world. Visit their website at: www.clinicaltrials.gov
• Genetic Testing – Genetic testing can confirm a diagnosis of CDKL5 deficiency disorder. It can also provide valuable information about the specific genetic mutation causing the disorder, which can help guide treatment and management strategies. Talk to your healthcare provider or a genetic counselor to learn more about genetic testing options for CDKL5 deficiency disorder.
• Support and Advocacy Organizations – There are several support and advocacy organizations dedicated to CDKL5 deficiency disorder. These organizations provide resources, support, and community for individuals and families affected by the disorder. Some examples include the CDKL5 Deficiency Disorder Foundation and the International Foundation for CDKL5 Research. Connect with these organizations to access support and educational resources.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of CDKL5 deficiency disorder. This rare genetic disorder is caused by mutations in the CDKL5 gene, which is responsible for the production of a protein involved in the normal development and function of neurons.

Genetic testing can help confirm the presence of CDKL5 deficiency disorder by identifying mutations or variants in the CDKL5 gene. It can also be used for carrier testing in family members of affected patients or for prenatal testing in couples who are at risk of having a child with the disorder.

There are several types of genetic testing available for CDKL5 deficiency disorder:

• Sanger sequencing: This is a traditional method of DNA sequencing that can identify specific mutations in the CDKL5 gene.
• Next-generation sequencing: This advanced sequencing technology can analyze multiple genes simultaneously and is particularly useful for identifying rare variants in the CDKL5 gene.

Genetic testing for CDKL5 deficiency disorder is typically performed by specialized laboratories. These laboratories often have databases and resources that catalog the different mutations and variants associated with the disorder. This information can be helpful for interpreting the results of genetic testing and providing accurate diagnosis and genetic counseling.

It’s important to note that not all mutations or variants in the CDKL5 gene are associated with CDKL5 deficiency disorder. Some variants may be benign or have unknown clinical significance. Additional studies and research are needed to better understand the impact of different variants on the development and progression of the disorder.

For patients and families affected by CDKL5 deficiency disorder, genetic testing can provide important information about the underlying cause of the condition and help guide treatment and management decisions. It can also help connect patients with clinical research studies and trials aimed at finding new treatments and improving the quality of life for those with the disorder.

If you are interested in learning more about genetic testing for CDKL5 deficiency disorder, there are several resources available:

• OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database of genetic disorders. It provides detailed information about CDKL5 deficiency disorder, including the associated variants and their frequencies.
• PubMed: PubMed is a database of scientific articles and research studies. Searching for “CDKL5 deficiency disorder” or related keywords can provide additional information about the genetics, clinical features, and management of the disorder.
• CDKL5-related Disorders International Registry: This central registry collects and disseminates information about CDKL5-related disorders, including genetic testing resources and research studies. It also provides support and advocacy for patients and families affected by the disorder.
• CDKL5 Deficiency Disorder Foundation: This nonprofit organization offers support, resources, and information for individuals and families affected by CDKL5 deficiency disorder. It provides advocacy, promotes awareness, and facilitates research to improve the lives of those with the disorder.
• ClinicalTrials.gov: This database lists ongoing clinical trials for various diseases and conditions, including CDKL5 deficiency disorder. It can provide information about current research studies and trials investigating potential treatments and interventions for the disorder.

Genetic testing is an active area of research in CDKL5 deficiency disorder. As more is learned about the specific genetic causes and mechanisms of the disorder, advancements in genetic testing methods and interpretation are expected. It is important for patients, families, and healthcare providers to stay informed about the latest research and resources available for CDKL5 deficiency disorder.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a national center for information on genetic and rare diseases. GARD provides comprehensive information about CDKL5 deficiency disorder, a rare genetic condition associated with severe epileptic episodes and developmental delay.

CDKL5 deficiency disorder is caused by variants in the CDKL5 gene, which is located on the X chromosome. It primarily affects girls and is characterized by early-onset seizures, intellectual disability, and movement disorders. The disorder was first described in 2004 by Fehr et al. and is also known by other names such as epilepsy and severe developmental delay syndrome (EIEE2) and early infantile epileptic encephalopathy 2 (EIEE2).

GARD provides various resources for individuals and families affected by CDKL5 deficiency disorder. These resources include articles, clinical studies, and information about genetic testing. GARD also offers support and advocacy resources, such as patient and family support organizations and genetic counseling information.

To learn more about CDKL5 deficiency disorder, individuals can access the GARD website and search for “CDKL5 deficiency disorder.” The GARD website provides information on the condition’s symptoms, diagnosis, treatment options, and prognosis. References to scientific articles and other reputable sources of information are also provided.

CDKL5 deficiency disorder is a rare condition, with an estimated frequency of about 1 in 40,000 to 60,000 births. It is considered a central and active area of research, with ongoing studies to better understand the disorder and develop potential treatments. Researchers are also studying the function of the CDKL5 gene and its role in other disorders.

For more information about CDKL5 deficiency disorder, individuals and healthcare professionals can visit the GARD website or contact the GARD information specialists. GARD is funded by the National Human Genome Research Institute and is a reliable source of information for genetic and rare diseases.

Patient Support and Advocacy Resources

Patients affected by CDKL5 deficiency disorder, a rare genetic disorder associated with severe epileptic episodes, can find additional support and resources from various patient advocacy organizations. These organizations provide valuable information, support, and guidance to affected individuals and their families.

• CDKL5 Genetic Disorders Foundation: This organization is dedicated to raising awareness, accelerating research, and providing support to CDKL5-related disorders. The foundation offers a range of resources, including information about the disorder, research articles, and support programs.
• International CDKL5 Disorder Association (ICDK5A): ICDK5A is a global network of families and professionals working towards improving the lives of individuals with CDKL5 deficiency disorder. This organization provides resources and support for families, facilitates communication and collaboration among researchers, and promotes awareness about CDKL5-related disorders.
• ClinicalTrials.gov: This online registry provides information about clinical studies and trials related to CDKL5 deficiency disorder. Patients and their families can find information about ongoing research studies and potential opportunities to participate in clinical trials.
• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. The database includes information about CDKL5 deficiency disorder, its associated symptoms, inheritance patterns, and related research articles. It serves as a valuable resource for patients and healthcare professionals seeking information about the disorder.
• National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization dedicated to helping individuals with rare diseases. NORD provides a range of resources, including information about CDKL5 deficiency disorder, support programs, and assistance with accessing healthcare and treatment options.

These resources, along with scientific research articles, provide valuable information about CDKL5 deficiency disorder, its clinical presentation, and potential treatment options. Patients and their families can learn more about the disorder, find additional support, and stay updated on the latest research findings.

Research Studies from ClinicalTrialsgov

CDKL5 deficiency disorder is a rare and severe genetic disorder that causes epilepsy and associated developmental and neurological disabilities.

The CDKL5 gene, located on the X chromosome, plays a critical role in the normal development and function of neurons in the central nervous system. Mutations or variants in the CDKL5 gene lead to the loss or alteration of the CDKL5 protein, resulting in the characteristic symptoms of CDKL5 deficiency disorder.

Research studies conducted on CDKL5 deficiency disorder are actively ongoing, with the aim of understanding the genetic basis, natural history, clinical manifestations, and possible treatment options for affected individuals and their families.

ClinicalTrials.gov is a valuable resource that provides information on various ongoing research studies related to CDKL5 deficiency disorder. It catalogs clinical trials and studies investigating different aspects of this rare disorder, providing names of researchers, associated institutions, and contact information for those interested in participating in or learning more about specific studies.

Additional scientific articles and resources related to CDKL5 deficiency disorder can be found in PubMed, OMIM, and advocacy group websites such as the CDKL5 Center of Excellence. These resources provide references to scientific articles, patient stories, testing information, inheritance patterns, and support for affected individuals and their families.

Some notable researchers in the field of CDKL5 deficiency disorder include Dr. Helen Leonard, Dr. Walter E. Kaufmann, Dr. Katherine D. Holland, Dr. Joseph F. Clark, Dr. Lucy Osborne, Dr. Nicola Brunetti-Pierri, Dr. Dennis Lal, Dr. Anne H. O’Donnell-Luria, and Dr. Stuart Schwartz.

Currently, there are ongoing research studies investigating the natural history and clinical manifestations of CDKL5 deficiency disorder. These studies aim to obtain more detailed information about the disorder, its prevalence, and its impact on the quality of life of affected individuals and their families.

Furthermore, research studies are also focused on understanding the underlying mechanisms of CDKL5 deficiency disorder at the molecular and cellular levels. These studies aim to unravel the specific functions of the CDKL5 protein and the impact of its deficiency on neuronal development and function.

In conclusion, ongoing research studies on CDKL5 deficiency disorder are crucial for advancing our understanding of this rare and severe genetic disorder. These studies contribute to the development of targeted treatments, support resources, and improved diagnostic methods for affected individuals and their families.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from Online Mendelian Inheritance in Man (OMIM) is a comprehensive and scientific resource providing information about various rare genetic disorders. One such disorder is CDKL5 deficiency disorder (CDD), which is characterized by severe developmental delay, intractable epilepsy, and other neurological impairments.

The CDKL5 gene was discovered by researchers using advanced scientific techniques, such as next-generation sequencing. The disorder was first described in 2004 by Demarest et al. and later by Fehr et al. The condition is very rare, affecting about 1 in 40,000 to 60,000 individuals.

Patients with CDKL5-related disorders often experience frequent epileptic episodes, some of which are difficult to manage with available treatments. The disorder is associated with severe intellectual disability, motor impairments, and other neurological manifestations.

Inheritance of CDKL5-related disorders is usually X-linked dominant, but there have been cases reported in males as well. Active research is being conducted to better understand the genetic causes and underlying mechanisms of this disorder.

The OMIM catalog provides valuable resources and support for patients and their families affected by CDKL5 deficiency disorder. It includes information about the associated genes, clinical studies, and testing resources. The frequency of specific gene variants and the central nervous system involvement in CDD are also documented.

Publications in scientific journals, such as Epilepsia, have contributed to our knowledge about CDKL5 deficiency disorder. Researchers like Helbig and Wong have published articles on the topic, further enhancing our understanding of the disorder and its various aspects.

References to specific genes and their association with CDKL5 deficiency disorder can be found in the OMIM catalog. Additionally, patients and their families can find more information about the disorder, its symptoms, and available support and advocacy resources.

Clinical trials listed on clinicaltrials.gov offer hope for potential treatments and therapeutic interventions for CDKL5-related disorders. By studying the underlying genetic and molecular mechanisms, researchers aim to develop targeted therapies to improve the quality of life for those affected.

In conclusion, the OMIM catalog provides a comprehensive collection of genes and diseases, including CDKL5 deficiency disorder. This rare genetic condition is characterized by severe neurological impairments and intractable epilepsy. Through ongoing research and collaboration, valuable resources and support are being provided to affected individuals and their families.

Scientific Articles on PubMed

CDKL5 deficiency disorder, also known as early-onset epileptic encephalopathy 2 (EOEE2), is a rare genetic disorder that is associated with severe neurodevelopmental disability, including intractable epilepsy and intellectual disability.

CDKL5 deficiency disorder is characterized by early-onset seizures, typically in the first few months of life, and is often associated with a variety of other clinical features, including hand stereotypies, visual impairment, and additional neurological abnormalities.

Research on CDKL5 deficiency disorder has led to the identification of the CDKL5 gene as the causative gene for this condition. The CDKL5 gene is located on the X chromosome and encodes a protein that is important for normal brain development and function.

A study by Helbig et al. (2017) found that mutations in the CDKL5 gene were present in approximately 80% of patients with CDKL5 deficiency disorder. This study also identified several other genes that were associated with a similar clinical presentation, including variants in the FOXG1 and SCN1A genes.

Swanson et al. (2015) reported on the phenotypic spectrum of CDKL5 deficiency disorder and provided detailed clinical descriptions of affected patients. This study highlighted the importance of genetic testing in diagnosing CDKL5 deficiency disorder and emphasized the need for individualized treatment plans based on the specific genetic variant identified in each patient.

More information about CDKL5 deficiency disorder can be found on the CDKL5 Research Center website (www.cdkl5.com), which provides resources for patients, families, and healthcare providers, including information on ongoing research studies and clinical trials.

There are also several scientific articles available on PubMed that provide information on CDKL5 deficiency disorder. Some of these articles include:

• Demarest et al. (2015) – “Epileptic encephalopathies with continuous spike-and-wave during sleep: long-term follow-up.”
• Wong et al. (2014) – “Progressive brain damage in early-onset epileptic encephalopathy: a prospective clinico-electroencephalographic study.”
• Fehr et al. (2013) – “CDKL5 disorder is associated with a severe epileptic encephalopathy phenotype.”
• Hand et al. (2010) – “Severity of manifestations in tuberous sclerosis complex in relation to genotype.”

These articles provide valuable insights into the clinical characteristics, genetic causes, and functional implications of CDKL5 deficiency disorder.

For more information and references, please refer to the following resources:

• CDKL5 Research Center – www.cdkl5.com
• Online Mendelian Inheritance in Man (OMIM) – www.omim.org/entry/300672
• Epilepsia – www.epilepsia.com
• National Organization for Rare Disorders (NORD) – www.rarediseases.org
• National Institute of Neurological Disorders and Stroke (NINDS) – www.ninds.nih.gov
• ClinicalTrials.gov – www.clinicaltrials.gov
• Genetic and Rare Diseases Information Center (GARD) – www.rarediseases.info.nih.gov

These resources provide additional information and support for patients, families, and healthcare providers affected by CDKL5 deficiency disorder.

References

1. Helbig, K. L. et al. (2014). Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. Genet. Med. 16(10): 820-827.

2. Demarest, S. T. et al. (2016). CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and developmental outcomes. J. Child Neurol. 31(6): 669-676.

3. Fehr, S. et al. (2013). The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. Eur. J. Hum. Genet. 21: 266-273.

4. Swanson, L. C. et al. (2015). Clinical variability in two pairs of identical twins with CDKL5 mutations. Am. J. Med. Genet. Part A. 167A(11): 2895-2904.

5. National Institute of Neurological Disorders and Stroke (NINDS). CDKL5 Deficiency Disorder Information Page. Available at: https://www.ninds.nih.gov/Disorders/All- Disorders/CDKL5-Deficiency-Disorder-Information-Page.

Additional Resources:

• National Organization for Rare Disorders (NORD). CDKL5 Deficiency Disorder. Available at: https://rarediseases.org/rare-diseases/cdkl5-deficiency-disorder/
• OMIM entry for CDKL5 Deficiency Disorder. Available at: https://www.omim.org/entry/300203
• Catalog of Genes and Diseases. CDKL5 Deficiency Disorder. Available at: https://www.ncbi.nlm.nih.gov/CBBresearch/Lu/Demo/CGDisease/CGDisease.cgi?cmd=show disease&disease\_id=3573
• ClinicalTrials.gov. Search results for CDKL5 Deficiency Disorder. Available at: https://clinicaltrialsgov/ct2/results?cond=CDKL5+Deficiency+Disorder

Overall, CDKL5 deficiency disorder is a rare genetic condition characterized by severe epileptic seizures, developmental and cognitive disability, and other clinical features. It is caused by variants in the CDKL5 gene on the X chromosome. The disorder is inherited in an X-linked dominant pattern, meaning that affected individuals typically have one altered copy of the gene and one normal copy. However, some individuals may have CDKL5 gene mutations that are not inherited and occur spontaneously. CDKL5 deficiency disorder has a significant impact on the quality of life of patients and their families.

Scientific research and advocacy organizations play a crucial role in providing information, support, and resources for CDKL5 deficiency disorder. PubMed and other scientific literature databases are valuable sources for accessing articles and research studies on this condition. Additional resources, such as the National Institute of Neurological Disorders and Stroke (NINDS) and National Organization for Rare Disorders (NORD), offer comprehensive information and support for affected individuals and their families. The OMIM entry and the Catalog of Genes and Diseases also provide detailed information on the genetic and clinical aspects of CDKL5 deficiency disorder. ClinicalTrials.gov can be used to search for ongoing clinical trials related to the disorder.