Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings

European Journal of Paediatric Neurology

Volumn 18, Issue 5, 2014, Pages 567-571

  Zerem, Ayelet ^a   Lev, Dorit ^a,b   Blumkin, Lubov ^a,b   Goldberg Stern, Hadassa ^b,c   Michaeli Yossef, Yael ^a   Halevy, Ayelet ^b,c   Kivity, Sara ^a,b   Nakamura, Kazuyuki ^d,e   Matsumoto, Naomichi ^e   Leshinsky Silver, Esther ^a,b   Saitsu, Hirotomo ^e   Lerman Sagie, Tally ^a,b  

^a WOLFSON MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^d YAMAGATA UNIVERSITY   (Japan)

^e YOKOHAMA CITY UNIVERSITY   (Japan)

Author keywords

Channelopathies; Early infantile epileptic encephalopathy; Genetic counseling; Mosaic mutation; Suppression burst

Indexed keywords

SODIUM CHANNEL NAV1.2; SCN2A PROTEIN, HUMAN;

ARTICLE; BRAIN DISEASE; CASE REPORT; CHILD; DISEASE SEVERITY; ELECTROENCEPHALOGRAM; HUMAN; INHERITANCE; KCNQ2 NEONATAL EPILEPTIC ENCEPHALOPATHY; MALE; MICROCEPHALY; MISSENSE MUTATION; MOSAICISM; OHTAHARA SYNDROME; PARENT COUNSELING; PATERNAL GERMLINE MOSAICISM; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCN8A EPILEPTIC ENCEPHALOPATHY; SEVERE MYOCLONIC EPILEPSY IN INFANCY; SIBLING; STXBP1 RELATED OHTAHARA SYNDROME; TONIC SEIZURE; AICARDI SYNDROME; ELECTROENCEPHALOGRAPHY; FATHER CHILD RELATION; FEMALE; GENETIC COUNSELING; GENETICS; INFANTILE SPASM; MUTATION; NUCLEOTIDE SEQUENCE;

AICARDI SYNDROME; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; FATHER-CHILD RELATIONS; FEMALE; GENETIC COUNSELING; HUMANS; MALE; MOSAICISM; MUTATION; NAV1.2 VOLTAGE-GATED SODIUM CHANNEL; SIBLINGS; SPASMS, INFANTILE;

EID: 84906934926     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2014.04.008     Document Type: Article

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