Adeno-Associated Virus-Mediated Gene Therapy in the Mashlool, , Mouse Model of Alternating Hemiplegia of Childhood.

Alternating Hemiplegia of Childhood (AHC) is a devastating autosomal dominant disorder caused by mutations, resulting in severe hemiplegia and dystonia spells, ataxia, debilitating disabilities, and premature death. Here, we determine the effects of delivering an extra copy of the normal gene in a mouse model carrying the most common mutation causing AHC in humans, the D801N mutation. We used an adeno-associated virus serotype 9 (AAV9) vector expressing the human gene under the control of a human Synapsin promoter.

Early onset severe ATP1A2 epileptic encephalopathy: Clinical characteristics and underlying mutations.

Background: ATP1A2 mutations cause hemiplegic migraine with or without epilepsy or acute reversible encephalopathy. Typical onset is in adulthood or older childhood without subsequent severe long-term developmental impairments.

Aim: We aimed to describe the manifestations of early onset severe ATP1A2-related epileptic encephalopathy and its underlying mutations in a cohort of seven patients.