Suchergebnisse - "Zemel, Matthew"

PubPharm (13)

1

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5

enthalten in: Neurology | 2023

von Happ, H. | Sadleir, L. | Zemel, M. | +52

2

Missense variants in the voltage sensing and pore domain of KCNH5 cause neurodevelopmental phenotypes including epilepsy

enthalten in: bioRxiv.org | 2022

von Happ, H. | Sadleir, L. | Zemel, M. | +51

3

Genetic convergence of developmental and epileptic encephalopathies and intellectual disability

enthalten in: Developmental medicine and child neurology | 2021

von Carvill, G. | Jansen, S. | Lacroix, A. | +8

CommentIn: Dev Med Child Neurol. 2021 Dec;63(12):1368. - PMID 34495545

4

Genetic convergence of developmental and epileptic encephalopathies and intellectual disability

enthalten in: Developmental Medicine & Child Neurology | 2021

von Carvill, G. | Jansen, S. | Lacroix, A. | +8

5

Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45

enthalten in: Epilepsia | 2018

von Carvill, G. | Liu, A. | Mandelstam, S. | +14

6

Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy

enthalten in: EMBO molecular medicine | 2017

von Dejanovic, B. | Djémié, T. | Grünewald, N. | +16

ErratumFor: EMBO Mol Med. 2015 Nov 27;7(12 ):1580-94. - PMID 26613940

7

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

enthalten in: American journal of human genetics | 2016

von Epi4K Consortium | Myers, C. | McMahon, J. | +43

8

Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy

enthalten in: EMBO molecular medicine | 2015

von Dejanovic, B. | Djémié, T. | Grünewald, N. | +16

ErratumIn: EMBO Mol Med. 2017 Dec;9(12 ):1764. - PMID 29196314

9

Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination

enthalten in: Neurology | 2015

von Mefford, H. | Zemel, M. | Geraghty, E. | +7

CommentIn: Neurology. 2015 Sep 1;85(9):748-9. - PMID 26224728

10

Epileptic spasms are a feature of DEPDC5 mTORopathy

enthalten in: Neurology. Genetics | 2015

von Carvill, G. | Crompton, D. | Regan, B. | +14