Girl with a PRRT2 mutation and infantile focal epilepsy with bilateral spikes

Brain and Development

Volumn 36, Issue 4, 2014, Pages 342-345

  Torisu, Hiroyuki ^a,b   Watanabe, Kyoko ^c   Shimojima, Keiko ^d   Sugawara, Midori ^d   Sanefuji, Masafumi ^a   Ishizaki, Yoshito ^a   Sakai, Yasunari ^a   Yamashita, Hironori ^c   Yamamoto, Toshiyuki ^d   Hara, Toshiro ^a  

^a KYUSHU UNIVERSITY   (Japan)

^b FUKUOKA DENTAL COLLEGE   (Japan)

^c Kokura Medical Center   (Japan)

^d TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

Author keywords

C.649_650insC; Infantile convulsion and paroxysmal choreoathetosis (ICCA); Infantile focal epilepsy; Mutation; Paroxysmal kinesigenic dyskinesia; PRRT2

Indexed keywords

CARBAMAZEPINE; MEMBRANE PROTEIN; NERVE PROTEIN; PRRT2 PROTEIN, HUMAN;

ARTICLE; ELECTROENCEPHALOGRAPHY; FAMILY HISTORY; FOCAL EPILEPSY; GENE; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; JAPANESE; MEDICAL HISTORY; PAROXYSMAL KINESIGENIC DYSKINESIA; PHENOTYPE; PRRT2 GENE; SEIZURE; BRAIN; CASE REPORT; DRUG EFFECTS; EPILEPSIES, PARTIAL; FAMILY; FEMALE; GENETICS; HUMAN; INFANT; JAPAN; MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PEDIGREE;

BRAIN; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; EPILEPSIES, PARTIAL; FAMILY; FEMALE; HUMANS; INFANT; JAPAN; MEMBRANE PROTEINS; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE;

EID: 84896107052     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2013.05.009     Document Type: Article

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