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OHTAHARA SYNDROME

GENETICS

PATTERN OF INHERITANCE

The commonest cause is structural brain abnormality, this may be an acquired brain abnormality, or due to de novo gene abnormalities.

KNOWN GENES

Genetic etiologies include: STXBP1 (10-15% of cases), SLC25A22, CDKL5, ARX, SPTAN1, PCDH19, KCNQ2, SCN2A and others.

FAMILY HISTORY OF SEIZURES/EPILEPSY

Family history of seizures or epilepsy is usually not present. A positive family history should trigger a search for a genetic or metabolic etiology.

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