GR.1 Different functional consequences result in different phenotypes in CLCN4-related developmental and epileptic encephalopathy

Background: Variants in CLCN4 are implicated in neurodevelopmental disorder, X-linked intellectual disability, and epileptic encephalopathy. CLCN4 encodes ClC-4, which is hypothesized to play a role in ion homeostasis and intracellular trafficking. ClC-4 relies on its formation of heterodimers with...

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Veröffentlicht in:	Canadian journal of neurological sciences 2023-06, Vol.50 (s2), p.S46-S46
Hauptverfasser:	Sahly, AN, Guzman, RE, Sierra-Marquez, J, Bungert-Plümke, S, Franzen, A, Mougharbel, L, Berrahmoune, S, Dassi, C, Srour, M, Myers, KA
Format:	Artikel
Sprache:	eng
Schlagworte:	Abstracts Epilepsy Grand Rounds Neurodevelopmental disorders Patients Platform Presentations
Online-Zugang:	Volltext
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