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CACNA1A mutations cause an autosomal dominant developmental and epileptic encephalopathy 42 (Developmental and Epileptic Encephalopathy 42), characterized by early-onset seizures, refractory epilepsy, global developmental delay, and ischemic stroke. Case-level evidence includes two unrelated pediatric patients with de novo CACNA1A variants identified by whole-exome sequencing, both presenting with neonatal or infantile seizures that evolved into intractable epilepsy and ischemic infarcts (2 probands) (PMID:35497372). No additional segregations were observed, and disease-specific functional studies are not yet reported, limiting the current evidence level. Nonetheless, CACNA1A testing should be considered in infants with unexplained strokes and refractory seizures to enable accurate diagnosis and guide management.
Gene–Disease AssociationLimitedTwo unrelated de novo probands with concordant DEE42 phenotype including intractable epilepsy and ischemic stroke (PMID:35497372). Genetic EvidenceLimitedCase-level data: two de novo pathogenic variants in unrelated patients with early-onset seizures and stroke ([PMID:35497372]). Functional EvidenceNo reported evidenceNo functional studies specifically assessing CACNA1A mutations in the context of DEE42 have been published. |