Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.
about
Advancing epilepsy genetics in the genomic eraTBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic functionThe Evolutionarily Conserved Tre2/Bub2/Cdc16 (TBC), Lysin Motif (LysM), Domain Catalytic (TLDc) Domain Is Neuroprotective against Oxidative StressUnresolved questions regarding human hereditary deafness.TLDc proteins: new players in the oxidative stress response and neurological disease.TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.TBC1D24 gene mRNA expression in a boy with early infantile epileptic encephalopathy-16.
P2860
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P2860
Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.
description
2015 nî lūn-bûn
@nan
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
2015年论文
@zh
2015年论文
@zh-cn
name
Homozygous TBC1D24 mutation in ...... erate intellectual disability.
@en
type
label
Homozygous TBC1D24 mutation in ...... erate intellectual disability.
@en
prefLabel
Homozygous TBC1D24 mutation in ...... erate intellectual disability.
@en
P2093
P921
P1433
P1476
Homozygous TBC1D24 mutation in ...... derate intellectual disability
@en
P2093
Anne-Lise Poulat
Dorothée Ville
Gaetan Lesca
Julitta de Bellescize
Mathieu Milh
Nathalie André-Obadia
Pierre Cacciagli
P356
10.1016/J.EPLEPSYRES.2015.01.008
P577
2015-01-25T00:00:00Z