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Familial schizencephaly

MedGen UID:
419186
•Concept ID:
C2931870
•
Disease or Syndrome
Synonyms: familial schizencephaly; hereditary schizencephaly
 
Monarch Initiative: MONDO:0018829
Orphanet: ORPHA481986

Definition

An instance of schizencephaly that is caused by an inherited modification of the individual's genome. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial schizencephaly

Professional guidelines

PubMed

Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.
Guerrini R, Carrozzo R
Seizure 2002 Apr;11 Suppl A:532-43; quiz 544-7. PMID: 12185771
Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.
Guerrini R, Carrozzo R
Seizure 2001 Oct;10(7):532-43; quiz 544-7. doi: 10.1053/seiz.2001.0650. PMID: 11749114

Recent clinical studies

Diagnosis

Familial schizencephaly: further delineation of a rare disorder.
Haverkamp F, Zerres K, Ostertun B, Emons D, Lentze MJ
J Med Genet 1995 Mar;32(3):242-4. doi: 10.1136/jmg.32.3.242. PMID: 7783181Free PMC Article
Familial schizencephaly.
Hilburger AC, Willis JK, Bouldin E, Henderson-Tilton A
Brain Dev 1993 May-Jun;15(3):234-6. doi: 10.1016/0387-7604(93)90072-g. PMID: 8214352

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