Cargando…

Gain of channel function and modified gating properties in TRPM3 mutants causing intellectual disability and epilepsy

Developmental and epileptic encephalopathies (DEE) are a heterogeneous group of disorders characterized by epilepsy with comorbid intellectual disability. Recently, two de novo heterozygous mutations in the gene encoding TRPM3, a calcium permeable ion channel, were identified as the cause of DEE in...

Descripción completa

Detalles Bibliográficos
Autores principales:	Van Hoeymissen, Evelien, Held, Katharina, Nogueira Freitas, Ana Cristina, Janssens, Annelies, Voets, Thomas, Vriens, Joris
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	eLife Sciences Publications, Ltd 2020
Materias:	Neuroscience
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253177/ https://www.ncbi.nlm.nih.gov/pubmed/32427099 http://dx.doi.org/10.7554/eLife.57190

Ejemplares similares

TRPM3 in temperature sensing and beyond
por: Held, Katharina, et al.
Publicado: (2015)

Mutations in the voltage‐sensing domain affect the alternative ion permeation pathway in the TRPM3 channel
por: Held, Katharina, et al.
Publicado: (2018)

Pharmacological properties of TRPM3 isoforms are determined by the length of the pore loop
por: Held, Katharina, et al.
Publicado: (2020)

Partial Agonistic Actions of Sex Hormone Steroids on TRPM3 Function
por: Persoons, Eleonora, et al.
Publicado: (2021)

Sensing the heat with TRPM3
por: Vriens, Joris, et al.
Publicado: (2018)

The newest TRP channelopathy: Gain of function TRPM3 mutations cause epilepsy and intellectual disability
por: Zhao, Siyuan, et al.
Publicado: (2021)

Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders
por: Burglen, Lydie, et al.
Publicado: (2023)

Definition of two agonist types at the mammalian cold-activated channel TRPM8
por: Janssens, Annelies, et al.
Publicado: (2016)

A cellular pathway controlling functional plasma membrane incorporation of the cold sensor TRPM8
por: Vriens, Joris, et al.
Publicado: (2016)

De novo substitutions of TRPM3 cause intellectual disability and epilepsy
por: Dyment, David A., et al.
Publicado: (2019)

VAMP7 regulates constitutive membrane incorporation of the cold-activated channel TRPM8
por: Ghosh, Debapriya, et al.
Publicado: (2016)

Upregulation of TRPM3 in nociceptors innervating inflamed tissue
por: Mulier, Marie, et al.
Publicado: (2020)

Regulation of the transient receptor potential channel TRPM3 by phosphoinositides
por: Tóth, Balázs I., et al.
Publicado: (2015)

TRPM3 as a novel target to alleviate acute oxaliplatin-induced peripheral neuropathic pain
por: Aloi, Vincenzo Davide, et al.
Publicado: (2023)

Possible association between moderate intellectual disability and weight gain in valproic acid–treated patients with epilepsy
por: Tanamachi, Yukiko, et al.
Publicado: (2015)

Intellectual disability in patients with epilepsy with eyelid myoclonias
por: Arvio, Maria, et al.
Publicado: (2018)

Intellectual Disability and Assistive Technology: Opening the GATE Wider
por: Boot, Fleur Heleen, et al.
Publicado: (2017)

Mg(2+)-dependent Gating and Strong Inward Rectification of the Cation Channel TRPV6
por: Voets, Thomas, et al.
Publicado: (2003)

De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy
por: Blanchard, Maxime G, et al.
Publicado: (2015)

TRPM3 Is Expressed in Afferent Bladder Neurons and Is Upregulated during Bladder Inflammation
por: Vanneste, Matthias, et al.
Publicado: (2021)

Mutations in HECW2 are associated with intellectual disability and epilepsy
por: Halvardson, Jonatan, et al.
Publicado: (2016)

Under representation of people with epilepsy and intellectual disability in research
por: Shankar, Rohit, et al.
Publicado: (2018)

The TRPM3 ion channel mediates nociception but not itch evoked by endogenous pruritogenic mediators
por: Kelemen, Balázs, et al.
Publicado: (2020)

Behavioral disorder in people with an intellectual disability and epilepsy: A report of the Intellectual Disability Task Force of the Neuropsychiatric Commission of ILAE
por: Kerr, Mike, et al.
Publicado: (2016)

TRPM3 in Brain (Patho)Physiology
por: Held, Katharina, et al.
Publicado: (2021)

Intelligence quotient is associated with epilepsy in children with intellectual disability in India
por: Lakhan, Ram
Publicado: (2013)

Copy number variations in Saudi family with intellectual disability and epilepsy
por: Naseer, Muhammad I., et al.
Publicado: (2016)

De novo diagnostics of patients with intellectual disability
por: Veltman, Joris A
Publicado: (2012)

Perampanel and Challenging Behaviour in Intellectual Disability and Epilepsy: A Management Dilemma
por: Dolton, Emily, et al.
Publicado: (2014)

Rare Copy Number Variations and Predictors in Children With Intellectual Disability and Epilepsy
por: Kessi, Miriam, et al.
Publicado: (2018)

Neuro2D Lies at the Nexus of Autism, Epilepsy, and Intellectual Disabilities
por: Bordey, Angelique
Publicado: (2022)

Bone health, intellectual disability and epilepsy: An observational community‐based study
por: Winterhalder, Robert, et al.
Publicado: (2022)

Mutual associations between intellectual disability and epilepsy-related psychiatry disability: Population-based study
por: Wang, Zhenjie, et al.
Publicado: (2017)

Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability
por: Rohena, Luis, et al.
Publicado: (2013)

GRIN2B Mutations in West Syndrome and Intellectual Disability with Focal Epilepsy
por: Lemke, Johannes R, et al.
Publicado: (2014)

Epilepsy, Behavioral Problems, and Intellectual Disability among Children in India: Conundrums and Challenges
por: Lakhan, Ram, et al.
Publicado: (2018)

Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy
por: Yokoi, Takayuki, et al.
Publicado: (2018)

Characterization of a KCNB1 variant associated with autism, intellectual disability, and epilepsy
por: Calhoun, Jeffrey D., et al.
Publicado: (2017)

Intellectual Disability Associated With Pyridoxine-Responsive Epilepsies: The Need to Protect Cognitive Development
por: Hassel, Bjørnar, et al.
Publicado: (2019)

Clinical services for adults with an intellectual disability and epilepsy: A comparison of management alternatives
por: Wagner, Adam P., et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_so9gc6io1hseae7dl7sbn47i2e