A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions

Brain and Development

Volumn 31, Issue 1, 2009, Pages 27-33

  Ishii, Atsushi ^a   Fukuma, Goryu ^a   Uehara, Akira ^a   Miyajima, Tasuku ^b   Makita, Yoshio ^c   Hamachi, Akiyo ^a   Yasukochi, Midori ^a   Inoue, Takahito ^a   Yasumoto, Sawa ^a   Okada, Motohiro ^d   Kaneko, Sunao ^e   Mitsudome, Akihisa ^a   Hirose, Shinichi ^a  

^a FUKUOKA UNIVERSITY   (Japan)

^b TOKYO MEDICAL UNIVERSITY   (Japan)

^c ASAHIKAWA MEDICAL COLLEGE   (Japan)

^d MIE UNIVERSITY   (Japan)

^e HIROSAKI UNIVERSITY   (Japan)

Author keywords

Benign familial neonatal convulsions (BFNC); KCNQ potassium channel; M current

Indexed keywords

COMPLEMENTARY DNA; PHENOBARBITAL; POTASSIUM CHANNEL; POTASSIUM CHANNEL KCNQ; POTASSIUM CHANNEL KCNQ2;

ARTICLE; BENIGN CHILDHOOD EPILEPSY; BRAIN ELECTROPHYSIOLOGY; CASE REPORT; CELL SELECTION; CELLULAR DISTRIBUTION; DELETION MUTANT; DEVELOPMENTAL GENE; DIFFERENTIAL DIAGNOSIS; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; HUMAN; IDIOPATHIC DISEASE; IMMUNOHISTOCHEMISTRY; KCNE2 GENE; KCNQ2 GENE; KCNQ3 GENE; KCNQ5 GENE; MOLECULAR MECHANICS; NEWBORN; NON FAMILIAL BENIGN NEONATAL CONVULSION; NUCLEOTIDE SEQUENCE; PHENOTYPE; SCN1A GENE; SCN2A GENE; WESTERN BLOTTING;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; BLOTTING, WESTERN; CELL LINE; CERCOPITHECUS AETHIOPS; COS CELLS; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; EPILEPSY, BENIGN NEONATAL; FEMALE; HUMANS; INFANT, NEWBORN; KCNQ2 POTASSIUM CHANNEL; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; RATS; SEQUENCE HOMOLOGY, AMINO ACID; TRANSFECTION;

EID: 57349142529     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2008.05.010     Document Type: Article

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