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EARLY-INFANTILE DEE (EIDEE)

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: KCNQ2, SCN2A, STXBP1, CDKL5, KCNT1 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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