Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental di...
Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders
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Author / Creator
Burglen, Lydie , Van Hoeymissen, Evelien , Qebibo, Leila , Barth, Magalie , Belnap, Newell , Boschann, Felix , Depienne, Christel , De Clercq, Katrien , Douglas, Andrew G L , Fitzgerald, Mark P , Foulds, Nicola , Garel, Catherine , Helbig, Ingo , Held, Katharina , Horn, Denise , Janssen, Annelies , Kaindl, Angela M , Narayanan, Vinodh , Prager, Christina , Rupin-Mas, Mailys , Afenjar, Alexandra , Zhao, Siyuan , Ramaekers, Vincent Th , Ruggiero, Sarah M , Thomas, Simon , Valence, Stéphanie , Van Maldergem, Lionel , Rohacs, Tibor , Rodriguez, Diana , Dyment, David , Voets, Thomas and Vriens, Joris
Publisher
England: eLife Sciences Publications Ltd
Journal title
Language
English
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Publication information
Publisher
England: eLife Sciences Publications Ltd
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More information
Scope and Contents
Contents
TRPM3 is a temperature- and neurosteroid-sensitive plasma membrane cation channel expressed in a variety of neuronal and non-neuronal cells. Recently, rare de novo variants in
were identified in individuals with developmental and epileptic encephalopathy, but the link between TRPM3 activity and neuronal disease remains poorly understood. We prev...
Alternative Titles
Full title
Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders
Authors, Artists and Contributors
Author / Creator
Van Hoeymissen, Evelien
Qebibo, Leila
Barth, Magalie
Belnap, Newell
Boschann, Felix
Depienne, Christel
De Clercq, Katrien
Douglas, Andrew G L
Fitzgerald, Mark P
Foulds, Nicola
Garel, Catherine
Helbig, Ingo
Held, Katharina
Horn, Denise
Janssen, Annelies
Kaindl, Angela M
Narayanan, Vinodh
Prager, Christina
Rupin-Mas, Mailys
Afenjar, Alexandra
Zhao, Siyuan
Ramaekers, Vincent Th
Ruggiero, Sarah M
Thomas, Simon
Valence, Stéphanie
Van Maldergem, Lionel
Rohacs, Tibor
Rodriguez, Diana
Dyment, David
Voets, Thomas
Vriens, Joris
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Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_40dfdc180e96470192bccc762e052743
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_40dfdc180e96470192bccc762e052743
Other Identifiers
ISSN
2050-084X
E-ISSN
2050-084X
DOI
10.7554/eLife.81032
