Seizure-genotype relationship in Fukuyama-type congenital muscular dystrophy

Brain and Development

Volumn 30, Issue 1, 2008, Pages 59-67

  Yoshioka, Mieko ^a   Higuchi, Yoshihisa ^b   Fujii, Tatsuya ^c   Aiba, Hideo ^d   Toda, Tatsushi ^e  

^a Kobe City Pediatric and General Rehabilitation Center for the Challenged   (Japan)

^b UTANO NATIONAL HOSPITAL   (Japan)

^c SHIGA MEDICAL CENTER FOR CHILDREN   (Japan)

^d SHIZUOKA CHILDREN'S HOSPITAL   (Japan)

^e OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Compound heterozygous mutation; Cortical malformation; Epilepsy; Fukuyama type congenital muscular dystrophy; Homozygous founder mutation; Mutational analysis; Seizure genotype relationship

Indexed keywords

ANTICONVULSIVE AGENT; CARBAMAZEPINE; CLONAZEPAM; PHENOBARBITAL; VALPROIC ACID; ZONISAMIDE;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE CONTROL; DISEASE SEVERITY; EXON; FEBRILE CONVULSION; FEMALE; FOLLOW UP; FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; FUKUYAMA TYPE CONGENITAL MUSCULAR DYSTROPHY GENE; GENE; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENOTYPE; HETEROZYGOSITY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INFANT; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; ONSET AGE; PHENOTYPE; PROGNOSIS; SEIZURE;

ADOLESCENT; ADULT; ANTICONVULSANTS; BRAIN; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EPILEPSY; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; JAPAN; MALE; MUSCULAR DYSTROPHIES; MUTATION; NERVOUS SYSTEM MALFORMATIONS; PROGNOSIS;

EID: 37349024015     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2007.05.012     Document Type: Article

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