Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy

Epilepsia

Volumn 53, Issue 8, 2012, Pages

  Poduri, Annapurna ^a,b   Chopra, Sameer S ^a,b,c   Neilan, Edward G ^b,c   Christina Elhosary, P ^a   Kurian, Manju A ^d,e   Meyer, Esther ^d   Barry, Brenda J ^f   Khwaja, Omar S ^a,b   Salih, Mustafa A M ^g   Stödberg, Tommy ^h   Scheffer, Ingrid E ⁱ   Maher, Eamonn R ^j   Sahin, Mustafa ^a,b,e   Wu, Bai Lin ^a   Berry, Gerard T ^a,b   Walsh, Christopher A ^a,b,f   Picker, Jonathan ^a,b   Kothare, Sanjeev V ^a,b  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c BRIGHAM AND WOMEN S HOSPITAL   (United States)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^f HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^g KING SAUD UNIVERSITY   (Saudi Arabia)

^h KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

ⁱ UNIVERSITY OF MELBOURNE   (Australia)

^j UNIVERSITY OF BIRMINGHAM   (United Kingdom)

more..

Author keywords

Focal epilepsy; Genetics; Migrating partial seizures in infancy; Phospholipase C beta 1

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 20P; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; ELECTROENCEPHALOGRAM; FOCAL EPILEPSY; GENE; GENE DELETION; GENETIC ASSOCIATION; HOMOZYGOSITY; HUMAN; INFANT; MALE; MALIGNANT MIGRATING PARTIAL SEIZURES IN INFANCY; PEDIGREE; PLCB1 GENE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EPILEPSIES, PARTIAL; GENE DELETION; HOMOZYGOTE; HUMANS; INFANT; MALE; PEDIGREE; PHOSPHOLIPASE C BETA;

EID: 84865039582     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/j.1528-1167.2012.03538.x     Document Type: Article

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