Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation

Epileptic Disorders

Volumn 16, Issue 2, 2014, Pages 208-212

  Ohashi, Tsukasa ^a   Akasaka, Noriyuki ^a   Kobayashi, Yu ^a   Magara, Shinichi ^a   Kawashima, Hideshi ^a   Matsumoto, Naomichi ^b   Saitsu, Hirotomo ^b   Tohyama, Jun ^a,c  

^a NISHI NIIGATA CHUO NATIONAL HOSPITAL   (Japan)

^b YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c NIIGATA UNIVERSITY MEDICAL AND DENTAL HOSPITAL   (Japan)

Author keywords

Ballismus; Chorea; Epileptic encephalopathy; Hand stereotypies; Hyperkinetic movement; SCN1A

Indexed keywords

CARBAMAZEPINE; CLOBAZAM; LAMOTRIGINE; PHENOBARBITAL; POTASSIUM BROMIDE; SODIUM CHANNEL NAV1.1; STIRIPENTOL; TOPIRAMATE; VALPROIC ACID;

BLEPHAROPHIMOSIS; BODY HEIGHT; BODY WEIGHT; CASE REPORT; CHILD; CLONIC SEIZURE; DEVELOPMENTAL DISORDER; DISEASE COURSE; DISEASE DURATION; DRUG EFFICACY; ELECTROENCEPHALOGRAM; EPILEPSY; EPILEPTIC STATE; FEMALE; GESTATIONAL AGE; HAND MOVEMENT; HEAD CIRCUMFERENCE; HUMAN; HUMAN CELL; HYPERKINESIA; INFANT; INFANTILE EPILEPTIC ENCEPHALOPATHY; INTELLECTUAL IMPAIRMENT; MISSENSE MUTATION; MOTOR DEVELOPMENT; MOTOR DYSFUNCTION; NEUROIMAGING; NOTE; NUCLEAR MAGNETIC RESONANCE IMAGING; OXYGEN THERAPY; PNEUMONIA; PRESCHOOL CHILD; PRIORITY JOURNAL; QUADRIPLEGIA; SCN1A GENE; SEIZURE; SEQUENCE ANALYSIS; SPASTICITY; THETA RHYTHM; TONIC CLONIC SEIZURE; TRANSIENT TACHYPNEA OF THE NEWBORN;

BALLISMUS; CHOREA; EPILEPTIC ENCEPHALOPATHY; HAND STEREOTYPIES; HYPERKINETIC MOVEMENT; SCN1A;

ATROPHY; BRAIN; DEVELOPMENTAL DISABILITIES; DYSKINESIAS; EPILEPSY; FEMALE; HUMANS; HYPERKINESIS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MUTATION; NAV1.1 VOLTAGE-GATED SODIUM CHANNEL; STATUS EPILEPTICUS; STEREOTYPED BEHAVIOR;

EID: 84904383594     PISSN: 12949361     EISSN: 19506945     Source Type: Journal    
DOI: 10.1684/epd.2014.0649     Document Type: Note

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