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EPILEPSY WITH MYOCLONIC-ATONIC SEIZURES

GENETICS

PATTERN OF INHERITANCE

Complex/polygenic inheritance with variable penetrance.

KNOWN GENES

A minority of cases may be explained by variants in SCN1A and SLC2A1.

FAMILY HISTORY OF SEIZURES/EPILEPSY

There is frequently a family history of febrile seizures (in 50% of cases); other seizures/epilepsy syndromes may also occur in families. Epilepsy with myoclonic-atonic seizures is seen in families with other individuals with genetic epilepsy with febrile seizures plus, suggesting common genetic etiological factors.

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