Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.
about
When Should Genetic Testing Be Performed in Epilepsy Patients?DEPDC5 mutations in familial and sporadic focal epilepsy.Precision medicine in genetic epilepsies: break of dawn?Recent advances in epilepsy.Pharmacogenomics in epilepsy.The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.DEPDC5 as a potential therapeutic target for epilepsy.Genetic Basis of Sudden Unexpected Death in Epilepsy.Cerebral palsy and seizures in a child with tubulinopathy pattern dysgenesis and focal cortical dysplasiaSomatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.A mouse model of DEPDC5-related epilepsy: Neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure susceptibility.Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy.The phenotypic spectrum of ARHGEF9 includes intellectual disability, focal epilepsy and febrile seizures.Dysplasia and overgrowth: magnetic resonance imaging of pediatric brain abnormalities secondary to alterations in the mechanistic target of rapamycin pathway.Commentary: GATOR Complex-Associated Epilepsies.Genomics-Guided Precise Anti-Epileptic Drug Development.Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy.Neuronal lysosomes.Depdc5 knockdown causes mTOR-dependent motor hyperactivity in zebrafish.
P2860
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P2860
Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年学术文章
@wuu
2016年学术文章
@zh-cn
2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
@yue
2016年學術文章
@zh
2016年學術文章
@zh-hant
name
Involvement of GATOR complex g ...... and focal cortical dysplasia.
@en
Involvement of GATOR complex g ...... and focal cortical dysplasia.
@nl
type
label
Involvement of GATOR complex g ...... and focal cortical dysplasia.
@en
Involvement of GATOR complex g ...... and focal cortical dysplasia.
@nl
prefLabel
Involvement of GATOR complex g ...... and focal cortical dysplasia.
@en
Involvement of GATOR complex g ...... and focal cortical dysplasia.
@nl
P2093
P2860
P356
P1433
P1476
Involvement of GATOR complex g ...... and focal cortical dysplasia.
@en
P2093
Alfred Meurs
Bart Dermaut
Christine Kallay Zetchi
Cécile Marchal
Elise Marsan
Eric Leguern
Fabienne Picard
Francine Chassoux
Isabelle An-Gourfinkel
Margitta Seeck
P2860
P304
P356
10.1111/EPI.13391
P577
2016-05-13T00:00:00Z