De novo mutations in SIK1 cause a spectrum of developmental epilepsies.
about
Autism spectrum disorder and epileptic encephalopathy: common causes, many questions.A de novo missense mutation of GABRB2 causes early myoclonic encephalopathyComprehensive Analysis of Tissue-wide Gene Expression and Phenotype Data Reveals Tissues Affected in Rare Genetic Disorders.Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes.Epileptic Encephalopathies-Clinical Syndromes and Pathophysiological Concepts.Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A.Epilepsy-causing sequence variations in SIK1 disrupt synaptic activity response gene expression and affect neuronal morphology.
P2860
Q33827328-ECE98E37-DDB0-44B3-94B4-C729A61BCD9AQ34543571-2AA1D0D4-1432-4518-A3A2-56C046531329Q38429616-B3B5763D-1BFD-455F-9907-5F682225A8F0Q38715101-7C403C9D-2173-4653-9214-E1B8D994EFFAQ39147509-B17648B9-B2E5-4F73-8B14-EC117DF16ED9Q48333941-78B4FF0C-4B38-43AE-82A1-5EAA6EC2BE42Q48511626-DB53F06A-16EE-4B8E-9B1A-2DAD14D6A3E1Q50469906-8FAF68DE-5C39-41A2-B103-607B07B8285D
P2860
De novo mutations in SIK1 cause a spectrum of developmental epilepsies.
description
2015 nî lūn-bûn
@nan
2015 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
De novo mutations in SIK1 cause a spectrum of developmental epilepsies.
@ast
De novo mutations in SIK1 cause a spectrum of developmental epilepsies.
@en
type
label
De novo mutations in SIK1 cause a spectrum of developmental epilepsies.
@ast
De novo mutations in SIK1 cause a spectrum of developmental epilepsies.
@en
prefLabel
De novo mutations in SIK1 cause a spectrum of developmental epilepsies.
@ast
De novo mutations in SIK1 cause a spectrum of developmental epilepsies.
@en
P2093
P2860
P1476
De novo mutations in SIK1 cause a spectrum of developmental epilepsies.
@en
P2093
Adam Spencer
Alex R Paciorkowski
Bryce M Paschal
Chelsi Snow
Christina A Gurnett
Christopher D Smyser
Chun-Song Yang
Dalia H Ghoneim
Emily Tuttle
James Wheless
P2860
P304
P356
10.1016/J.AJHG.2015.02.013
P407
P577
2015-04-01T00:00:00Z