Clinical phenotypes of infantile onset CACNA1A-related disorder

Background CACNA1A-related disorders present with persistent progressive and non-progressive cerebellar ataxia paroxysmal events: epileptic seizures non-epileptic attacks. These phenotypes overlap co-exist in the majority of patients. Objective To describe infantile onset disorder to explore intra-familial variations genotype-phenotype correlations. Material methods This study was a multicenter international collaboration. A retrospective chart review CACNA1A patients performed. Clinical, radiological, genetic data were collected analyzed 47 infantile-onset disorder. Results Paroxysmal events (PNEE) observed 68% infants, tonic upward gaze (PTU) noticed 47% infants. Congenital (CCA) diagnosed 51% including four developmental delay only one neurological sign. PNEEs found 63% at follow-up, episodic (EA) 40% sample. Cerebellar 58% follow-up. Four had epilepsy infancy nine childhood. Seven infants febrile convulsions, three which developed later; all CCA. Cognitive difficulties demonstrated 70% children. atrophy infant but depicted 64% MRIs after age two. Conclusions Nearly CCA, PNEE or both. frequent appeared be associated Epilepsy more Febrile convulsions association CCA may indicate risk later Brain MRI normal infancy. There no correlations found.