about
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndromeParoxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsiesMolecular analysis of the A322D mutation in the GABA receptor alpha-subunit causing juvenile myoclonic epilepsyBurden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsiesGenome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.Axon initial segment dysfunction in a mouse model of genetic epilepsy with febrile seizures plus.Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study
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Q24600816-385F8F58-8710-4F04-B12B-BA2ED570E77DQ24648494-7275AF81-9E13-4420-ADCE-3048B1189005Q28213203-DCBE8955-5AB9-4723-8057-48F9246A62E3Q28262624-9F307553-5D30-427A-B427-EC9CB59C0866Q28647874-4BE71911-4B44-4404-B38C-81516CA1EC2FQ29417109-07121B2B-AB10-4701-82F3-47DD1E98AA0AQ30481800-BFF7D11D-5D3B-4B6D-858B-1D4870E197BFQ30495760-EAD93B44-4E73-4475-9725-1A57B1F1F15FQ57573940-2A5B8A14-003D-49AE-BF27-7985ECAD3D47Q57573940-9F73B0CF-46E4-47DF-A083-83E277D2359F
P50
description
German neurologist
@en
German neurologist
@en-ca
German neurologist
@en-gb
deutscher Neurologe
@de
neurólogo alemán
@es
onderzoeker
@nl
հետազոտող
@hy
طبيب أعصاب ألماني
@ar
name
Holger Lerche
@ast
Holger Lerche
@de
Holger Lerche
@en
Holger Lerche
@es
Holger Lerche
@fr
Holger Lerche
@nl
Holger Lerche
@sl
type
label
Holger Lerche
@ast
Holger Lerche
@de
Holger Lerche
@en
Holger Lerche
@es
Holger Lerche
@fr
Holger Lerche
@nl
Holger Lerche
@sl
prefLabel
Holger Lerche
@ast
Holger Lerche
@de
Holger Lerche
@en
Holger Lerche
@es
Holger Lerche
@fr
Holger Lerche
@nl
Holger Lerche
@sl
P227
P106
P21
P227
1052446949
P31
P569
1966-01-01T00:00:00Z