Remapping and mutation analysis of benign adult familial myoclonic epilepsy in a Japanese pedigree.
about
Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2A case-control proton magnetic resonance spectroscopy study confirms cerebellar dysfunction in benign adult familial myoclonic epilepsy.Gray Matter Loss and Related Functional Connectivity Alterations in A Chinese Family With Benign Adult Familial Myoclonic Epilepsy.A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28.Clinical and neurophysiological features of familial cortical myoclonic tremor with epilepsy.A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype.Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A.Familial Cortical Myoclonic Tremor and Epilepsy, an Enigmatic Disorder: From Phenotypes to Pathophysiology and Genetics. A Systematic Review.Fine mapping and whole-exome sequencing of a familial cortical myoclonic tremor with epilepsy family.Altered cerebellar-cerebral functional connectivity in benign adult familial myoclonic epilepsy.
P2860
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P2860
Remapping and mutation analysis of benign adult familial myoclonic epilepsy in a Japanese pedigree.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh
2011年學術文章
@zh-hant
name
Remapping and mutation analysi ...... ilepsy in a Japanese pedigree.
@en
Remapping and mutation analysi ...... ilepsy in a Japanese pedigree.
@nl
type
label
Remapping and mutation analysi ...... ilepsy in a Japanese pedigree.
@en
Remapping and mutation analysi ...... ilepsy in a Japanese pedigree.
@nl
prefLabel
Remapping and mutation analysi ...... ilepsy in a Japanese pedigree.
@en
Remapping and mutation analysi ...... ilepsy in a Japanese pedigree.
@nl
P2093
P2860
P356
P1476
Remapping and mutation analysi ...... ilepsy in a Japanese pedigree.
@en
P2093
Akira Sano
Masayuki Nakamura
Satsuki Mori
Shu-Ichi Ueno
Sunao Kaneko
Takeshi Yasuda
P2860
P2888
P304
P356
10.1038/JHG.2011.93
P577
2011-08-18T00:00:00Z