Two Missense CACNA1A Variants in a Single Family with Variable Neurobehavioral, Cerebellar, Epileptic, and Oculomotor Features.
Neuropediatrics
; 52(3): 186-191, 2021 06.
Article
em En
| MEDLINE
| ID: mdl-33445191
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Ataxia Cerebelar
/
Epilepsia
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article