about
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolismGlutamatergic neuron-targeted loss of LGI1 epilepsy gene results in seizuresDEPDC5-Related EpilepsyFirst genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit geneFunctional gamma-secretase complex assembly in Golgi/trans-Golgi network: interactions among presenilin, nicastrin, Aph1, Pen-2, and gamma-secretase substratesA rat model for LGI1-related epilepsies.De novo mutations in HCN1 cause early infantile epileptic encephalopathy.Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy.Fever, genes, and epilepsy.LGI1 acts presynaptically to regulate excitatory synaptic transmission during early postnatal development.Novel GABRG2 mutations cause familial febrile seizuresIncreased DJ-1 expression under oxidative stress and in Alzheimer's disease brains.Mutations of DEPDC5 cause autosomal dominant focal epilepsiesRole of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.Genetics advances in autosomal dominant focal epilepsies: focus on DEPDC5.Genetic models of focal epilepsies.LGI1 tunes intrinsic excitability by regulating the density of axonal Kv1 channels.mTOR signaling pathway genes in focal epilepsies.Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.Epilepsy gene LGI1 regulates postnatal developmental remodeling of retinogeniculate synapses.mTOR pathway in familial focal epilepsies.A novel three base-pair LGI1 deletion leading to loss of function in a family with autosomal dominant lateral temporal epilepsy and migraine-like episodes.Zebrafish lacking Alzheimer presenilin enhancer 2 (Pen-2) demonstrate excessive p53-dependent apoptosis and neuronal loss.Dimerization of Parkinson's disease-causing DJ-1 and formation of high molecular weight complexes in human brain.mTOR pathway, focal cortical dysplasia and epilepsy.Choking Fits During Sleep Related to Epilepsy.DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy.Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations.Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.Depdc5 knockout rat: A novel model of mTORopathy.Seizure semiology in autosomal dominant epilepsy with auditory features, due to novel LGI1 mutations.Depdc5 knockdown causes mTOR-dependent motor hyperactivity in zebrafish.The landscape of epilepsy-related GATOR1 variantsThe Nogo Receptor Ligand LGI1 Regulates Synapse Number and Synaptic Activity in Hippocampal and Cortical NeuronsRare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control studyClinical and genetic study of Tunisian families with genetic generalized epilepsy: contribution of CACNA1H and MAST4 genesSecond-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia-associated epilepsyGenes in infantile epileptic encephalopathies
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P50
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հետազոտող
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Stéphanie Baulac
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Stéphanie Baulac
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Stéphanie Baulac
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Stéphanie Baulac
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Stéphanie Baulac
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Stéphanie Baulac
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Stéphanie Baulac
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Stéphanie Baulac
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Stéphanie Baulac
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Stéphanie Baulac
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Stéphanie Baulac
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Stéphanie Baulac
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Stéphanie Baulac
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Stéphanie Baulac
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Stéphanie Baulac
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P214
P106
P21
P214
P31
P496
0000-0001-6430-4693
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