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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy
Epilepsia, Volume 53, No. 8, Year 2012
Notification
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Description
Summary Malignant migrating partial seizures in infancy (MMPEI) is an early onset epileptic encephalopathy with few known etiologies. We sought to identify a novel cause of MMPEI in a child with MMPEI whose healthy parents were consanguineous. We used array comparative genomic hybridization (CGH) to identify copy number variants genome-wide and long-range polymerase chain reaction to further delineate the breakpoints of a deletion found by CGH. The proband had an inherited homozygous deletion of chromosome 20p13, disrupting the promoter region and first three coding exons of the gene PLCB1. Additional MMPEI cases were screened for similar deletions or mutations in PLCB1 but did not harbor mutations. Our results suggest that loss of PLCβ1 function is one cause of MMPEI, consistent with prior studies in a Plcb1 knockout mouse model that develops early onset epilepsy. We provide novel insight into the molecular mechanisms underlying MMPEI and further implicate PLCB1 as a candidate gene for severe childhood epilepsies. This work highlights the importance of pursuing genetic etiologies for severe early onset epilepsy syndromes. © 2012 International League Against Epilepsy.
Authors & Co-Authors
Poduri, Annapurna H.
United States, Boston
Boston Children's Hospital
United States, Boston
Harvard Medical School
Chopra, Sameer S.
United States, Boston
Harvard Medical School
United States, Boston
Brigham and Women's Hospital
United States, Boston
Boston Children's Hospital
Neilan, Edward G.
United States, Boston
Harvard Medical School
United States, Boston
Brigham and Women's Hospital
Christina Elhosary, P.
United States, Boston
Boston Children's Hospital
Kurian, M.
United Kingdom, London
Ucl Great Ormond Street Institute of Child Health
United Kingdom, London
Great Ormond Street Hospital for Children Nhs Foundation Trust
Meyer, Esther
United Kingdom, London
Ucl Great Ormond Street Institute of Child Health
Barry, Brenda J.
United States, Chevy Chase
Howard Hughes Medical Institute
Khwaja, O. S.
United States, Boston
Boston Children's Hospital
United States, Boston
Harvard Medical School
Salih, Mustafa Abdalla M.
Saudi Arabia, Riyadh
College of Medicine
Stödberg, Tommy I.
Sweden, Stockholm
Karolinska Universitetssjukhuset
Scheffer, Ingrid E.
Australia, Melbourne
University of Melbourne
Mäher, Eamonn Richard
United Kingdom, Birmingham
University of Birmingham
Sahin, Mustafa
United States, Boston
Boston Children's Hospital
United States, Boston
Harvard Medical School
United Kingdom, London
Great Ormond Street Hospital for Children Nhs Foundation Trust
Wu, Bai Lin
United States, Boston
Boston Children's Hospital
Berry, Gerard T.
United States, Boston
Harvard Medical School
United States, Boston
Boston Children's Hospital
Walsh, Christopher A.
United States, Boston
Harvard Medical School
United States, Boston
Boston Children's Hospital
United States, Chevy Chase
Howard Hughes Medical Institute
Picker, Jonathan
United States, Boston
Harvard Medical School
United States, Boston
Boston Children's Hospital
Kothare, Sanjeev
United States, Boston
Boston Children's Hospital
United States, Boston
Harvard Medical School
Statistics
Citations: 116
Authors: 18
Affiliations: 10
Identifiers
Doi:
10.1111/j.1528-1167.2012.03538.x
e-ISSN:
15281167
Research Areas
Cancer
Genetics And Genomics
Maternal And Child Health