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Neuropediatrics 2021; 52(03): 186-191
DOI: 10.1055/s-0040-1721686
DOI: 10.1055/s-0040-1721686
Original Article
Two Missense CACNA1A Variants in a Single Family with Variable Neurobehavioral, Cerebellar, Epileptic, and Oculomotor Features
Abstract
We describe two novel missense variants in CACNA1A segregating in a family with variable severity of ataxia/oculomotor dysfunction, neurobehavioral impairments, and epilepsy. The most severe outcome occurred in a compound heterozygous proband, which could represent variable expression of the paternal allele or biallelic modulation of calcium channel function. Acetazolamide and lamotrigine were effective for seizure control.
Publikationsverlauf
Eingereicht: 15. Mai 2020
Angenommen: 10. September 2020
Artikel online veröffentlicht:
14. Januar 2021
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