Different epilepsy course of a novel AHDC1 mutation in a female monozygotic twin pair
Seizure(2022)
Abstract
•Xia-Gibbs syndrome shows remarkable phenotypic variability and intra-familial heterogeneity.•Although seizures have frequently been reported, the clinical and EEG pattern is till undefined.•Our observation suggest epilepsy may present with Lennox-Gastaut-like features.•Prognosis and response to ASMs may differ even between patients with the same.•mutation.
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Key words
Xia-Gibbs,Seizure,Treatment,Prognosis
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