Contents
[hide]
[show]

Isolated lissencephaly sequence (ILS) is a rare genetic condition that affects the development of the brain. It is characterized by a smooth surface of the cerebral cortex, known as lissencephaly, and is usually associated with severe intellectual and developmental disabilities.

The classic features of isolated lissencephaly sequence include a lack of normal folds in the brain, as well as abnormal positioning of neurons within the cortical layers. This disorganized migration of neurons during development leads to the loss of normal brain structure and function.

ILS has been the subject of extensive research, with scientists identifying a number of genes that are associated with the condition. Mutations in these genes disrupt the normal molecular processes that control neuronal migration, leading to the development of lissencephaly.

Isolated lissencephaly sequence can cause a range of symptoms and severity, with some individuals experiencing severe cognitive and physical impairments, while others have mild intellectual disabilities. Additional features that can be associated with ILS include epilepsy, breathing difficulties, and other neurological problems.

Genetic testing is available to diagnose isolated lissencephaly sequence, allowing for early intervention and supportive care. Although the condition is rare, it is important for healthcare professionals to be aware of the signs and symptoms, as early intervention can help improve a patient’s quality of life.

For more information on isolated lissencephaly sequence, as well as current research and clinical trials, visit resources like the Online Mendelian Inheritance in Man (OMIM) catalog, PubMed, and clinicaltrialsgov. Patient advocacy organizations and support groups can also provide valuable information and resources for individuals and families affected by this rare condition.

About half of all denied claims that are challenged or appealed ultimately end up being covered – but only when policyholders put in the time and energy to fight the denial, the Los Angeles Times

In conclusion, isolated lissencephaly sequence is a rare genetic disorder that affects the development of the brain. Understanding the genetic causes and molecular mechanisms behind this condition can help scientists and healthcare professionals learn more about the migration of neurons and the disorganized brain structure observed in patients with ILS.

Frequency

Isolated lissencephaly sequence is a rare genetic condition that affects the migration and organization of neurons in the brain. It is associated with a loss of neurons in the cerebral cortex, resulting in a smooth appearance of the brain’s surface, instead of the normal wrinkled appearance. The primary cause of this condition is a mutation in one of several genes involved in brain development.

The frequency of isolated lissencephaly sequence is estimated to be around 1 in every 50,000 live births. It is more common in males than in females, and the inheritance pattern of the condition varies depending on the specific gene mutation involved. In some cases, the condition is inherited in an autosomal dominant manner, meaning affected individuals have a 50% chance of passing the mutation on to their children. In other cases, it may occur sporadically, with no family history of the condition.

Research studies and scientific articles have contributed to our understanding of the genetic and molecular causes of isolated lissencephaly sequence. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are valuable resources for learning more about the genetic basis of this condition and the specific genes involved. Additional information and support can be found through patient advocacy organizations and support groups for families affected by lissencephaly and related conditions.

Causes

Isolated lissencephaly sequence, also known as isolated lissencephaly type 1, is primarily caused by mutation in the PAFAH1B1 gene. This gene provides instructions for making a protein called platelet-activating factor acetylhydrolase, isoform 1B1. Mutations in this gene can disrupt normal brain development and result in the characteristic features of isolated lissencephaly sequence.

Other genes have also been associated with isolated lissencephaly sequence, including the LIS1 gene (also known as PAFAH1B1) and the DCX gene. Mutations in these genes can interfere with the migration of neurons, leading to the brain abnormalities seen in this condition.

Isolated lissencephaly sequence can be inherited in an autosomal recessive or X-linked manner, depending on the specific gene involved. Autosomal recessive inheritance means that both copies of the gene must be mutated to cause the condition, while X-linked inheritance means that the gene mutation is located on the X chromosome and primarily affects males.

In some cases, the cause of isolated lissencephaly sequence is not identified. This suggests that there may be additional genetic causes yet to be discovered.

Research is ongoing to better understand the genetic causes of isolated lissencephaly sequence and to develop new treatments. Studies have focused on identifying additional genes and mutations associated with the condition, as well as investigating the molecular and cellular mechanisms underlying the abnormal brain development.

Scientists are also studying the effects of these genetic mutations on neuron migration and the development of brain structures. By gaining a better understanding of the genetic causes, researchers hope to develop targeted therapies to improve outcomes for individuals with isolated lissencephaly sequence.

There are several resources available for patients, families, and scientific researchers interested in learning more about isolated lissencephaly sequence and its genetic causes. These resources include online databases and catalogs of genetic diseases and associated genes, such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

Patient advocacy organizations and support groups can also provide information and support for individuals affected by isolated lissencephaly sequence and their families. These organizations connect families with each other and with medical professionals and researchers to share experiences, resources, and knowledge.

More research and clinical trials are needed to further understand the genetic causes of isolated lissencephaly sequence and to develop targeted therapies. ClinicalTrials.gov is a resource where individuals can find information about ongoing clinical trials related to isolated lissencephaly sequence and other rare genetic conditions.

Learn more about the genes associated with Isolated lissencephaly sequence

Lissencephaly is a rare genetic condition that affects the development of the brain. It is characterized by the absence or underdevelopment of the folds and grooves in the cerebral cortex, resulting in a smooth appearance of the brain.

See also  PCCA gene

Isolated lissencephaly sequence refers to cases of lissencephaly where there are no additional brain abnormalities. It is typically caused by mutations in genes involved in neuronal migration. These genes play a critical role in guiding neurons to their proper location in the brain during development.

Some of the genes associated with isolated lissencephaly sequence include:

  • LIS1 (also known as PAFAH1B1)
  • DCX (also known as doublecortin)
  • TUBA1A (also known as α-tubulin)
  • KRIT1 (also known as CCM1)
  • ARX (also known as aristaless related homeobox)

These genes are important for the proper migration of neurons during brain development. Mutations in these genes can disrupt the normal migration process, leading to the formation of lissencephaly and associated brain abnormalities.

ClinicalTrials.gov and OMIM are great resources to learn more about the genes associated with isolated lissencephaly sequence and their inheritance patterns. On these platforms, you can find information about ongoing clinical trials, genetic testing, and the latest research articles related to this condition.

It is important to note that isolated lissencephaly sequence is a rare genetic disorder, and the frequency of specific gene mutations may vary among patients. Genetic testing can help determine the underlying genetic cause in individual patients.

Support and advocacy groups, such as the Lissencephaly Resource and Research Center, provide valuable resources and information for families and individuals affected by isolated lissencephaly sequence. They offer support, connect families with healthcare professionals, and contribute to research efforts to better understand the condition.

If you are interested in learning more about the genes associated with isolated lissencephaly sequence, you can find references and research articles on PubMed. These resources can provide more in-depth information about the molecular mechanisms and genetic causes of this condition.

Overall, further research on the genes associated with isolated lissencephaly sequence can lead to a better understanding of the condition and potentially guide the development of targeted treatments in the future.

Inheritance

Isolated lissencephaly sequence (ILS) is a rare genetic condition that affects the development of the brain. It is typically inherited in a classic autosomal recessive manner, meaning that both parents must carry a copy of the same mutated gene in order for their child to develop the condition. However, there are also rare cases where ILS occurs sporadically, without any known genetic cause.

ILS is caused by mutations in genes that are involved in the migration of neurons during brain development. These mutations result in a loss of normal neuron migration and organization within the brain, leading to a smooth appearance of the brain surface instead of the usual convoluted folds.

Several genes have been associated with ILS, including the LIS1 gene and the DCX gene. These genes play essential roles in neuronal migration, and mutations in these genes can disrupt the normal formation of the brain’s structure.

ILS is more commonly found in females than in males, with a frequency of about 1 in 60,000 females. The condition can cause a range of symptoms and clinical features, including intellectual disability, seizures, feeding difficulties, and breathing problems. The severity of these symptoms can vary widely among affected individuals.

There is currently no cure for ILS, and treatment is based on managing the symptoms and providing support for affected individuals. Genetic testing can be used to confirm a diagnosis of ILS and identify the specific gene mutation involved. This information can be valuable for families in understanding the condition and making informed decisions about their child’s care.

Research studies and clinical trials are ongoing to learn more about the causes and mechanisms of ILS, as well as potential treatments. For more information about ILS, its genetic causes, and available resources, additional references and resources can be found on scientific databases such as OMIM, PubMed, and the Genetic and Rare Diseases Information Center. Genetic counseling and advocacy organizations are also valuable sources of information and support for patients and families affected by ILS.

Other Names for This Condition

This condition goes by several other names, including:

  • Isolated lissencephaly sequence
  • Lissencephaly, isolated
  • Disorganized cortical lamination syndrome
  • Infantile lissencephaly
  • Lissencephaly, classic
  • Lissencephaly type 1 (LIS1)
  • Lissencephaly type 2 (LIS2)
  • Lissencephaly type 3 (LIS3)
  • Lissencephaly type 4 (LIS4)

This condition is associated with a loss or mutation of certain genes involved in brain development. Some of the genes that have been identified in relation to this condition include LIS1, DCX, TUBA1A, and ARX.

The frequency of this condition is rare, and it primarily affects infants. It can cause a range of clinical symptoms, including developmental delay, intellectual disability, seizures, and problems with breathing and consciousness.

Genetic testing can be done to confirm a diagnosis of isolated lissencephaly sequence. Further research and studies are being conducted to better understand the causes and genetics of this condition.

For more information about isolated lissencephaly sequence, resources such as OMIM, PubMed, and clinicaltrialsgov can provide additional support and research articles. Genetic counseling and advocacy center can also provide information and support for families affected by this condition.

Additional Information Resources

For more information about Isolated lissencephaly sequence and its causes, inheritance pattern, and associated symptoms, you can refer to the following resources:

  • OMIM: OMIM database provides comprehensive information on genetic diseases. You can search for Isolated lissencephaly sequence and related genes within the database.
  • PubMed: PubMed is a scientific research database where you can find articles and studies on Isolated lissencephaly sequence, its molecular genetics, and associated conditions.
  • Neurol Genetics: The Neurol Genetics center specializes in genetic testing and counseling for neurological disorders, including Isolated lissencephaly sequence.
  • Genetic Advocacy Organizations: Genetic advocacy organizations can provide support and information for individuals and families affected by Isolated lissencephaly sequence. These organizations often have resources on the latest research, clinical trials, and patient support networks.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of ongoing clinical trials. You can search for any current trials related to Isolated lissencephaly sequence to learn more about potential treatments or experimental therapies.

These additional resources can help you learn more about Isolated lissencephaly sequence, its genetic causes, and available support and research opportunities.

Genetic Testing Information

Infantile isolated lissencephaly sequence (ILS) is a rare genetic condition characterized by disorganized neurons in the brain, resulting in loss of the normal convolutions (gyri) and an abnormally smooth brain surface. It is also associated with heterotopia, where clusters of neurons are located in abnormal areas of the brain.

Genetic testing can provide valuable information about the causes of ILS. There are several genes that have been associated with this condition, including LIS1, DCX, and ARX. Mutations in these genes can disrupt the normal processes of brain development and neuronal migration.

See also  Li-Fraumeni syndrome

Genetic testing for ILS can be done through various methods, such as chromosomal microarray analysis, targeted gene sequencing, and whole exome sequencing. These tests can identify specific genetic mutations in the genes associated with ILS, providing important information for diagnosis and prognosis.

Testing for ILS is particularly important for families with a history of the condition, as it can help determine the risk of recurrence in future pregnancies. Additionally, genetic testing can assist in providing appropriate medical management and support for patients with ILS.

There are several resources available for genetic testing and information about ILS. The Online Mendelian Inheritance in Man (OMIM) database provides a catalog of known genes associated with ILS, along with references to scientific articles and additional information. PubMed, a database of scientific articles, also contains a wealth of information about ILS and related conditions.

Furthermore, advocacy groups and patient support organizations can provide additional information and resources for individuals and families affected by ILS. ClinicalTrials.gov can also provide information about ongoing clinical trials and research studies related to ILS and other genetic diseases.

In summary, genetic testing plays a crucial role in understanding the causes and inheritance patterns of isolated lissencephaly sequence. It provides valuable information for diagnosis, prognosis, and medical management. Patients and their families can benefit from the resources and support available through advocacy groups and research organizations.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a center that provides reliable, up-to-date information on genetic and rare diseases. One of the conditions covered by GARD is lissencephaly, a rare genetic disorder characterized by the smoothness of the brain surface.

Lissencephaly is a condition that affects brain development. It is characterized by the absence or reduction of the normal folds and grooves on the surface of the brain. This condition can result in severe intellectual disability, developmental delays, seizures, and other neurological problems.

GARD provides information about various aspects of lissencephaly, including its causes, symptoms, and treatment options. It also offers resources for genetic testing and genetic counseling for individuals and families affected by this condition.

Genetic testing can help identify specific genes and mutations associated with lissencephaly. By learning more about the genes involved, researchers and healthcare professionals can gain a better understanding of the underlying molecular mechanisms and potentially develop targeted treatments.

GARD provides information on various genes associated with lissencephaly, such as LIS1 and DCX. OMIM, the Online Mendelian Inheritance in Man database, is a valuable resource for finding additional information about these genes and their role in lissencephaly.

In the case of isolated lissencephaly sequence, researchers have found that changes in the LIS1 gene or the DCX gene can cause the condition. Inheritance patterns for lissencephaly can vary, with some cases being inherited in an autosomal recessive manner and others being caused by de novo mutations.

The migration of neurons within the developing brain is disrupted in lissencephaly, leading to the disorganized arrangement of brain cells. This can result in the loss of normal brain functions and can explain the clinical features observed in individuals with lissencephaly.

Patients with lissencephaly may have a range of symptoms and severity, depending on the specific gene mutation and other factors. Classic signs include developmental delays, intellectual disability, seizures, and impaired consciousness. In some cases, affected individuals may also experience breathing difficulties as infants or other associated abnormalities, such as heterotopia (an abnormal placement of brain cells).

GARD provides a catalog of rare diseases, including lissencephaly, and offers links to additional resources for information and support. Patients and their families can access articles, research studies, and advocacy organizations to learn more about this condition and connect with others going through similar experiences.

Scientific research on lissencephaly and related genetic disorders is ongoing. Advances in genetics and molecular biology have contributed to a better understanding of the causes, mechanisms, and potential treatments for lissencephaly. Ongoing research aims to improve genetic testing, develop targeted therapies, and provide better support for individuals and families affected by this condition.

References to scientific articles and other resources related to lissencephaly can be found on GARD’s website. The frequency of lissencephaly is relatively rare, with estimates suggesting that it occurs in approximately 1 in every 50,000-100,000 live births.

For individuals interested in participating in research studies or clinical trials related to lissencephaly, GARD provides information on ongoing studies listed on clinicaltrials.gov.

In summary, the Genetic and Rare Diseases Information Center (GARD) is a valuable resource for information and support for individuals and families affected by lissencephaly and other rare genetic disorders. It offers information on the genetic causes, clinical features, testing options, and treatment approaches for lissencephaly. GARD aims to empower individuals and their families with knowledge and resources to better understand and manage their condition.

Patient Support and Advocacy Resources

For patients and families seeking to learn more about Isolated Lissencephaly Sequence (ILS), there are several resources available to provide support and advocacy.

  • Lissencephaly Resource Center: The Lissencephaly Resource Center is a comprehensive center of information for individuals affected by lissencephaly and other genetic diseases associated with neuronal migration disorders. Their website provides scientific and patient resources for learning more about the condition.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) provides up-to-date information about genes and genetic conditions. Patients can search for specific genes associated with lissencephaly and find detailed information about the condition.
  • Patient Support Groups: Joining patient support groups can provide a network of individuals and families who understand the challenges of lissencephaly. These groups often offer emotional support and practical advice for managing the condition.
  • Genetic Testing: Genetic testing can help confirm a diagnosis of isolated lissencephaly sequence and identify specific gene mutations. More information about genetic testing can be found through genetic counseling and medical professionals.
  • Research Studies: Participating in research studies and clinical trials can contribute to the understanding of isolated lissencephaly sequence and potentially lead to new treatment options. Information about current studies can be found on websites such as ClinicalTrials.gov.
  • PubMed Articles: PubMed is a valuable resource for finding scientific articles and research papers related to lissencephaly. Patients and families can search for specific topics of interest to learn more about the latest advancements in the field.
See also  MMP14 gene

By accessing these patient support and advocacy resources, individuals affected by isolated lissencephaly sequence can gain a better understanding of the condition and connect with others who share similar experiences.

Research Studies from ClinicalTrialsgov

Lissencephaly is a rare genetic condition characterized by the classic smooth brain appearance due to the absence or reduction in the number of folds (gyri) in the cerebral cortex. It can be associated with other brain abnormalities such as heterotopia, disorganized migration of neurons, and loss of consciousness.

Scientific research studies from ClinicalTrialsgov are focusing on understanding the molecular and genetic causes of isolated lissencephaly sequence and related conditions. These studies aim to identify the genes and mutations responsible for the condition and explore potential treatment options.

Some of the research studies listed on ClinicalTrialsgov include:

  • A study investigating the genetic basis of lissencephaly and associated conditions by analyzing patient DNA samples. This study aims to identify the specific genes and mutations responsible for the disorder.
  • A clinical trial testing the effectiveness of a novel treatment approach targeting the abnormal brain structure and function in lissencephaly patients.
  • An advocacy and support center providing resources and information for families affected by lissencephaly. This center offers support groups, educational materials, and access to clinical trials and genetic testing.

These research studies and resources provided by ClinicalTrialsgov are essential for advancing our understanding of lissencephaly and developing effective treatments. They provide valuable information for healthcare professionals, researchers, and families affected by the condition.

For more information about lissencephaly and related genetic disorders, you can refer to the scientific articles and references available on PubMed, OMIM, and other scientific databases.

References and Resources:
Resource Description
PubMed A database of scientific articles and research studies
OMIM An online catalog of human genes and genetic disorders
ClinicalTrialsgov A comprehensive registry of clinical research studies

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database serves as a comprehensive center for genetic information related to various diseases. This catalog provides a wealth of scientific and clinical resources for researchers, clinicians, and advocacy groups.

Lissencephaly is a rare genetic condition characterized by a smooth or disorganized brain surface due to abnormal neuronal migration. Isolated lissencephaly sequence (ILS) is a specific type of lissencephaly with no other associated brain anomalies such as heterotopia. The condition is more common in females and has both sporadic and rare familial inheritance patterns.

Genetic studies have identified several genes that, when mutated, can cause isolated lissencephaly sequence. Some of the genes associated with this condition include:

  • DCX: Mutations in this gene are the most common cause of classic lissencephaly, accounting for the majority of cases.
  • PAFAH1B1: Mutations in this gene are responsible for a specific subtype of lissencephaly known as “Miller-Dieker syndrome.”
  • TUBA1A: Mutations in this gene can cause both lissencephaly and polymicrogyria.

Molecular genetic testing can be performed to identify specific gene mutations in patients with isolated lissencephaly sequence. Additional resources for genetic testing and counseling can be found on the OMIM website.

Research on isolated lissencephaly sequence and its associated genes is ongoing, with numerous scientific articles published on the topic. PubMed, a comprehensive database of scientific literature, is a valuable source for finding relevant research studies.

Patients with isolated lissencephaly sequence may experience a range of clinical symptoms, such as feeding difficulties, breathing problems, and developmental delays. Some individuals may also have seizures and low muscle tone.

To support patients and their families, organizations such as clinicaltrialsgov and advocacy groups provide information about ongoing research, clinical trials, and available support resources.

Learning about the genetics and causes of isolated lissencephaly sequence can help researchers better understand the condition and develop potential treatments or interventions. The OMIM catalog serves as a valuable tool in disseminating genetic information and supporting further scientific advancements in the field.

References:

  1. Cardoso C, Leventer RJ. Lissencephaly. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2014.
  2. Gleeson JG, Walsh CA. Neuronal migration disorders: from genetic diseases to developmental mechanisms. Trends Neurosci. 2000;23(8):352-359.
  3. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University. Entry No: 607432. Available at: https://www.omim.org/entry/607432. Accessed [insert date here].

Scientific Articles on PubMed

Isolated Lissencephaly Sequence:

Isolated lissencephaly sequence is a rare condition characterized by the loss of normal convolutions (gyri) on the surface of the brain. This leads to a smooth appearance (lissencephaly) instead of the normal wrinkled appearance. The condition affects brain development and can cause severe intellectual disability and developmental delay.

Causes and Genetic Information:

Isolated lissencephaly sequence can be caused by various genetic mutations. The most common cause is a mutation in the LIS1 gene, which is involved in brain development. Other genes, such as DCX and ARX, have also been associated with the condition. Genetic testing can be done to identify the specific genetic cause in a patient.

Neuronal Migration and Heterotopia:

In normal brain development, neurons migrate to their proper positions in the brain. In isolated lissencephaly sequence, this migration process is disrupted, leading to the formation of abnormal patches of neurons called heterotopia. These heterotopic neurons are disorganized and do not function properly.

Clinical Trials and Research:

Research on isolated lissencephaly sequence is ongoing, with the goal of understanding the genetic and molecular basis of the condition. Clinical trials are also being conducted to test potential treatments for the condition. Additional research is needed to learn more about the causes, inheritance patterns, and possible treatment options for isolated lissencephaly sequence.

Resources and Support:

There are several organizations and advocacy groups that provide support and information for families affected by isolated lissencephaly sequence. OMIM (Online Mendelian Inheritance in Man) is a catalog of genes and genetic disorders, including isolated lissencephaly sequence. PubMed is a resource for scientific articles on a wide range of topics, including genetics and rare diseases.

References:

  • Catalog of Genes and Genetic Disorders. OMIM: Isolated Lissencephaly Sequence. Available at: https://omim.org/entry/607432
  • PubMed. Available at: https://pubmed.ncbi.nlm.nih.gov/

References

Related Posts