Homozygous PLCB1 Deletion Associated with Malignant Migrating Partial Seizures in Infancy

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 identif...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Poduri, Annapurna, Chopra, Sameer S., Neilan, Edward G., Elhosary, P. Christina, Kurian, Manju A., Meyer, Esther, Barry, Brenda J., Khwaja, Omar S., Salih, Mustafa A. M., Sci, Dr Med, Stödberg, Tommy, Scheffer, Ingrid E., Maher, Eamonn R., Sahin, Mustafa, Wu, Bai-Lin, Med, M, Berry, Gerard T., Walsh, Christopher A., Picker, Jonathan, Kothare, Sanjeev V.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: 2012
विषय:
Article
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC3851296/
https://ncbi.nlm.nih.gov/pubmed/22690784
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1528-1167.2012.03538.x
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