Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene

Epilepsia

Volumn 53, Issue 8, 2012, Pages 1436-1440

  Berger, Itai ^a   Dor, Talya ^a,b   Halvardson, Jonatan ^c   Edvardson, Simon ^a,b   Shaag, Avraham ^a   Feuk, Lars ^c   Elpeleg, Orly ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^c UPPSALA UNIVERSITY   (Sweden)

Author keywords

EFHC1; Infancy; Intractable epilepsy; Juvenile myoclonic epilepsy

Indexed keywords

ARTICLE; CLINICAL ARTICLE; EFCH1 GENE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INTRACTABLE EPILEPSY; MYOCLONUS EPILEPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

CALCIUM-BINDING PROTEINS; CHILD, PRESCHOOL; EPILEPSY; EXOME; FATAL OUTCOME; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84865001590     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/j.1528-1167.2012.03536.x     Document Type: Article

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