P.079 MT-TA: A mitochondrial genome cause of developmental and epileptic encephalopathy

CDKL5 Encephalopathy: A Rare Cause of Infantile Epileptic Encephalopathy.

Recessive twinkle mutations cause severe epileptic encephalopathy.

The C10orf2 gene encodes the mitochondrial DNA helicase Twinkle, which is one of the proteins important for mitochondrial DNA maintenance. Dominant mutations cause multiple mitochondrial DNA deletions and progressive external ophthalmoplegia, but recent findings associate recessive mutations with mitochondrial DNA depletion and encephalopathy or hepatoencephalopathy. The latter clinical phenoty...

Epileptic Encephalopathy

Epileptic encephalopathies are conditions in which epileptic activity itself is postulated to contribute to severe cognitive and behavioural impairments above and beyond what might be expected from the underlying pathology alone. The term has been used in two ways: (1) as a generic classification term for epilepsies with severe cognitive and be-havioural outcomes and (2) as a pathophysiological...

GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy

The gamma-aminobutyric acid type A receptor β3 gene (GABRB3) encodes the β3-subunit of the gamma-aminobutyric acid type A (GABAA ) receptor, which mediates inhibitory signalling within the central nervous system. Recently, GABRB3 mutations have been identified in a few patients with infantile spasms and Lennox-Gastaut syndrome. We report the clinical and electrographic features of a novel case ...

KCNA2-Related Epileptic Encephalopathy

Investigators from the University Leipzig and University of Tübingen report mutations of KCNA2 as a novel cause of epileptic encephalopathy.