Suchergebnisse - (Person:"Johannes")

PubPharm (5)

1

SLC6A1 variant pathogenicity, molecular function and phenotype : a genetic and clinical analysis

enthalten in: Brain : a journal of neurology | 2023

von Stefanski, A. | Pérez-Palma, E. | Brünger, T. | +43

2

Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes

enthalten in: Brain : a journal of neurology | 2023

von Brünger, T. | Pérez-Palma, E. | Montanucci, L. | +10

CommentIn: Epilepsy Curr. 2023 Jan 18;23(2):118-120. - PMID 37122415

3

Compound-heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathy

enthalten in: Epilepsia | 2022

von Strehlow, V. | Rieubland, C. | Gallati, S. | +7

4

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

enthalten in: Brain : a journal of neurology | 2022

von Johannesen, K. | Liu, Y. | Koko, M. | +98

5

Impaired action potential initiation in GABAergic interneurons causes hyperexcitable networks in an epileptic mouse model carrying a human Na(V)1.1 mutation

enthalten in: The Journal of neuroscience : the official journal of the Society for Neuroscience | 2014

von Hedrich, U. | Liautard, C. | Kirschenbaum, D. | +10

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