Article
SCN8A heterozygous variants are associated with anoxic-epileptic seizures.
American journal of medical genetics. Part A - 1 May 2020
Ranza Emmanuelle, Z'Graggen Werner, Lidgren Mathias, Beghetti Maurice, Guipponi Michel, Antonarakis Stylianos E, Absoud Michael, Goyal Sushma, Pal Deb K, Korff Christian M
Abstract excerpt
Anoxic-epileptic seizures (AES) are rare outcomes of common childhood reflex anoxic syncope that trigger a true epileptic seizure. The term AES was coined by Stephenson in 1983, to differentiate these events from convulsive syncopes and the more common reflex anoxic syncopes. A genetic susceptibility for AES has been postulated; but, its molecular basis has up to now been elusive. We report here two illustrative...
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