Cargando…
Genetic T-type calcium channelopathies
T-type channels are low-voltage-activated calcium channels that contribute to a variety of cellular and physiological functions, including neuronal excitability, hormone and neurotransmitter release as well as developmental aspects. Several human conditions including epilepsy, autism spectrum disord...
Autores principales: | Weiss, Norbert, Zamponi, Gerald W |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BMJ Publishing Group
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6929700/ https://www.ncbi.nlm.nih.gov/pubmed/31217264 http://dx.doi.org/10.1136/jmedgenet-2019-106163 |
Ejemplares similares
-
Genetic neurological channelopathies: molecular genetics and clinical phenotypes
por: Spillane, J, et al.
Publicado: (2016) -
Systematic evaluation of genetic mutations in ALS: a population-based study
por: Grassano, Maurizio, et al.
Publicado: (2022) -
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome
por: Serpieri, Valentina, et al.
Publicado: (2023) -
Excess of singleton loss-of-function variants in Parkinson’s disease contributes to genetic risk
por: Bobbili, Dheeraj Reddy, et al.
Publicado: (2020) -
Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation
por: Liu, Yo-Tsen, et al.
Publicado: (2014)