Suchergebnisse - "SCN2A protein, human"

PubPharm (266)

1

Impaired cerebellar plasticity hypersensitizes sensory reflexes in SCN2A-associated ASD

enthalten in: Neuron | 2024

von Wang, C. | Derderian, K. | Hamada, E. | +6

UpdateOf: bioRxiv. 2023 Jun 07;:. - PMID 37333267

2

Pathogenic gating pore current conducted by autism-related mutations in the NaV1.2 brain sodium channel

enthalten in: Proceedings of the National Academy of Sciences of the United States of America | 2024

von Eltokhi, A. | Lundstrom, B. | Li, J. | +3

3

An iPSC line (FINi003-A) from a male with late-onset developmental and epileptic encephalopathy caused by a heterozygous p.E1211K variant in the SCN2A gene encoding the voltage-gated sodium channel Nav1.2

enthalten in: Stem cell research | 2024

von Ovchinnikov, D. | Jong, S. | Cuddy, C. | +5

4

Distinctive In Vitro Phenotypes in iPSC-Derived Neurons From Patients With Gain- and Loss-of-Function SCN2A Developmental and Epileptic Encephalopathy

enthalten in: The Journal of neuroscience : the official journal of the Society for Neuroscience | 2024

von Mao, M. | Mattei, C. | Rollo, B. | +14

5

Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene

enthalten in: European journal of human genetics : EJHG | 2024

von Panagiotakaki, E. | Tiziano, F. | Mikati, M. | +23

6

What does better look like in individuals with severe neurodevelopmental impairments? A qualitative descriptive study on SCN2A-related developmental and epileptic encephalopathy

enthalten in: Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation | 2024

von Downs, J. | Ludwig, N. | Wojnaroski, M. | +6

7

Deep brain stimulation for status dystonicus in a toddler with SCN2A-related disorder

enthalten in: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery | 2023

von Mithani, K. | Breitbart, S. | Fasano, A. | +2

8

Frequency of SCN2A-related disorder in the regional epilepsy centre of brescia between 2002 and 2021

enthalten in: Clinical neurology and neurosurgery | 2023

von Filippi, C. | Milito, G. | Accorsi, P. | +5

9

Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties

enthalten in: The Journal of general physiology | 2023

von Thompson, C. | Potet, F. | Abramova, T. | +5

UpdateOf: bioRxiv. 2023 Feb 23;:. - PMID 36865317

10

Generation of an iPSC line (FINi001-A) from a girl with developmental and epileptic encephalopathy due to a heterozygous gain-of-function p.R1882Q variant in the voltage-gated sodium channel Nav1.2 protein encoded by the SCN2A gene

enthalten in: Stem cell research | 2023

von Ovchinnikov, D. | Jong, S. | Cuddy, C. | +3

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