The neuropsychiatric phenotype in CACNA1A mutations: a retrospective single center study and review of the literature.
Elisabetta IndelicatoW NachbauerE KarnerA EigentlerM WagnerI UnterbergerW PoeweM DelazerS BoeschPublished in: European journal of neurology (2018)
Neuropsychiatric manifestations are common in episodic CACNA1A disorders. In the case of otherwise unexplained developmental delay and a positive family history, CACNA1A mutations should be considered in the differential diagnosis.
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