Baltic myoclonic epilepsy

An autosomal dominant condition caused by mutation(s) in the SLC6A1 gene, encoding sodium- and chloride-dependent GABA transporter 1. It is characterized by early onset of absence and myoclonic seizures following developmental delay. Intellectual disability may develop following the onset of seizures.

Disease Alternative Name

mae
myoclonic-atonic epilepsy
myoclonic-atonic seizure
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