PhenomeGene — Human Disease Gene Website SeriesSLC7A3

Management

Management of developmental delay and/or ASD:
•    early intervention through therapies (speech, occupational, physical therapy).

Management of seizures/epilepsy:
•    standard care.
•    no specific antiseizure medication (ASM) has been proposed. Small case series showed beneficial effects of ethosuximide, levetiracetam and eslicarbazepine.

General management:
•    family support and counselling.
•    follow-up by (child) neurologist.