Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation.
We report a female patient who presented with intractable epileptic seizures, profound developmental delay since early infancy, and hyperkinetic movements with hand stereotypies. The patient initially developed focal seizures with multiple foci at 3 months of age. Thereafter, the seizures evolved to frequent episodes of hyperthermia-induced status epilepticus. A novel de novo SCN1A mutation was identified by whole-exome sequence analysis. This case demonstrates that SCN1A mutations may cause movement disorders as an atypical phenotype and the case history of this patient may expand our understanding of the clinical spectrum of SCN1A-associated epileptic encephalopathy. [Published with video sequences].
Department of Child Neurology, Nishi-Niigata Chuo National Hospital, Niigata.
Tsukasa
T
Ohashi
Department of Child Neurology, Nishi-Niigata Chuo National Hospital, Niigata.
Noriyuki
N
Akasaka
Department of Child Neurology, Nishi-Niigata Chuo National Hospital, Niigata.
Yu
Y
Kobayashi
Department of Child Neurology, Nishi-Niigata Chuo National Hospital, Niigata.
Shinichi
S
Magara
Department of Child Neurology, Nishi-Niigata Chuo National Hospital, Niigata.
Hideshi
H
Kawashima
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama.
Naomichi
N
Matsumoto
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama.
Hirotomo
H
Saitsu
Department of Child Neurology, Nishi-Niigata Chuo National Hospital, Niigata, Niigata University Medical and Dental Hospital, Niigata, Japan.
Jun
J
Tohyama
D001284:Atrophy; D001921:Brain / Q000473:pathology; D002658:Developmental Disabilities / Q000150:complications; D020820:Dyskinesias / Q000503:physiopathology; D004827:Epilepsy / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D006948:Hyperkinesis / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D009154:Mutation / Q000235:genetics / Q000502:physiology; D062550:NAV1.1 Voltage-Gated Sodium Channel / Q000235:genetics*; D013226:Status Epilepticus / Q000150:complications; D013239:Stereotyped Behavior / Q000502:physiology*
D062550:NAV1.1 Voltage-Gated Sodium Channel; C568242:SCN1A protein, human
SCN1A; ballismus; chorea; epileptic encephalopathy; hand stereotypies; hyperkinetic movement