Case Report: Clinical delineation of CACNA1D mutation: New cases and literature review

Case Report: Clinical delineation of CACNA1D mutation: New cases and literature review

BackgroundCalcium ions are involved in several human cellular processes; nevertheless, the relationship between calcium channelopathies (CCs) and autism spectrum disorder (ASD) or intellectual disability (ID) has been previously investigated. We delineate the spectrum of clinical phenotypes and the...

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Bibliographic Details
Main Authors: Alshaimaa Alzahrani, Maha Alshalan, Mohammed Alfurayh, Abdulaziz Bin Akrish, Najlaa A. Alsubeeh, Fuad Al Mutairi
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-04-01
Series:Frontiers in Neurology
Subjects:
case report
CACNA1D gene
autism (ASC)
pervasive development disorder
childhood neurologic disorders
seizure
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2023.1131490/full

Internet

https://www.frontiersin.org/articles/10.3389/fneur.2023.1131490/full

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