| 概要 |
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements (NEDNEH) is caused by homozygous or compound heterozygous mutations in the CACNA1B gene and is characterized by epileptic encephalopathy, severe neurodevelopmental delay (often with regression), and a hyperkinetic movement disorder.
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| 著者 |
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G, Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA |
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