Schizencephaly

Common Name(s)

Schizencephaly

Schizencephaly is a developmental birth defect. It is characterized by abnormal slits or clefts in the cerebral hemispheres of the brain. People with clefts in both hemispheres commonly have developmental delays, delays in speech and language skills, seizures, and problems with brain-spinal cord communication. Individuals with clefts in only one hemisphere are often paralyzed on one side of the body, may have seizures, and may have average to near-average intelligence. Other signs and symptoms may include an abnormally small head (microcephaly), hydrocephalus, intellectual disability, partial or complete paralysis, or poor muscle tone (hypotonia). Treatment generally consists of physical therapy and drugs to prevent seizures. In cases that are complicated by hydrocephalus, a surgically implanted tube, called a shunt, is often used to divert fluid to another area of the body where it can be absorbed.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Schizencephaly" for support, advocacy or research.

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CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

Last Updated: 12 Oct 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Schizencephaly" for support, advocacy or research.

Logo
CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Schizencephaly" returned 29 free, full-text research articles on human participants. First 3 results:

Schizencephaly: association with young maternal age, alcohol use, and lack of prenatal care.
 

Author(s): Kira A Dies, Adria Bodell, Fuki M Hisama, Chao-Yu Guo, Brenda Barry, Bernard S Chang, A James Barkovich, Christopher A Walsh

Journal: J. Child Neurol.. 2013 Feb;28(2):198-203.

 

Schizencephaly is a rare malformation of cortical development characterized by congenital clefts extending from the pial surface to the lateral ventricle that are lined by heterotopic gray matter. The clinical presentation is variable and can include motor or cognitive impairment ...

Last Updated: 24 Jan 2013

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Schizencephaly: a study of 16 patients.
 

Author(s): I Pascual-Castroviejo, S I Pascual-Pascual, R Velazquez-Fragua, J Viaño, D Quiñones

Journal: Neurologia. 2012 Oct;27(8):491-9.

 

To present 16 patients with schizencephaly and neurological involvement, and analyse their characteristics and neuroimages.

Last Updated: 24 Sep 2012

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Schizencephaly prevalence, prenatal diagnosis and clues to etiology: a register-based study.
 

Author(s): D T Howe, J Rankin, E S Draper

Journal: Ultrasound Obstet Gynecol. 2012 Jan;39(1):75-82.

 

To establish the prevalence and antenatal diagnosis of schizencephaly in the UK.

Last Updated: 3 Jan 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Schizencephaly" returned 1 free, full-text review articles on human participants. First 3 results:

Schizencephaly associated with bipolar affective disorder.
 

Author(s): P Relan, S K Chaturvedi, B Shetty

Journal: Neurol India. 2002 Jun;50(2):194-7.

 

Schizencephaly is a rare congenital anomaly of the brain, characterized by formation of abnormal unilateral or bilateral clefts in the cerebral hemispheres. It often manifests with partial seizures, mental retardation and hemiparesis. Only two cases of schizencephaly associated with ...

Last Updated: 22 Jul 2002

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Human Epilepsy Genetics--Neuronal Migration Disorders Study
 

Status: Recruiting

Condition Summary: Epilepsy; Seizures; Cognition Disorders; Neuronal Migration Disorders

 

Last Updated: 27 Jun 2014

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