SCHIZENCEPHALY

GENETICS

PATTERN OF INHERITANCE

• De novo acquired gene abnormality
• Familial inheritance - autosomal dominant inheritance is recognized for COL4A1 pathogenic variants

NOTE schizencephaly may not be inherited, as it may be due to acquired injuries to the developing brain (infection, hypoxia-ischemia)

KNOWN GENES

COL4A1 (can cause porencephaly or schizencephaly)

FAMILY HISTORY

Rare familial cases have been described (see above).