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Abstract Details

Intractable Epilepsy and Ischemic Strokes in Two Children, both with CACNA1A Gene Mutations
Child Neurology and Developmental Neurology
P12 - Poster Session 12 (5:30 PM-6:30 PM)
Mutations in the CACNA1A gene have been associated with multiple neurologic phenotypes, including Episodic Ataxia Type 2, Familial Hemiplegic Migraines Type 1, Developmental and Epileptic Encephalopathy 42, and Idiopathic Generalized Epilepsy. To date, only 5 case studies have linked ischemic strokes to mutations in the CACNA1A gene.
The aim of this case report is to add to the existing literature and further support a recently described phenotype of CACNA1A gene mutations.

We describe two unrelated patients with ischemic strokes, intractable epilepsy, and developmental delays in the setting of CACNA1A gene mutations.  Our first patient is an 11-year-old girl who presented with seizures at birth and recurrent ischemic stroke at ages 5 years, 7 years, and 11 years. Our second patient is a 9-year-old girl who presented with status epilepticus and a simultaneous ischemic stroke at 17 months old. Whole exome sequencing was performed as part of these patients' diagnostic work-up.

Whole exome sequencing demonstrated de novo pathogenic mutations in the CACNA1A gene in both patients. Patient 1 was found to have a recurrent heterozygous de novo variant, c.2137 G>A (p.A713T), which has not been associated with ischemic stroke to date. Patient 2 was found to have a novel de novo pathogenic gene variant, c.4015 T>C (p.C1369R).

Pediatric patients who present with ischemic stroke and a history of seizures should be evaluated for CACNA1A mutations, as prompt recognition can help providers facilitate appropriate medical management.

Kristen Bolte
Miss Bolte has nothing to disclose.
Melissa Assaf, NP, APN-Genetics (Banner Health - Child Neurology) Dr. Assaf has nothing to disclose.
Tamara Zach, MD, FAAN (Banner Health) Dr. Zach has nothing to disclose.
Shubhangi S. Peche, MD An immediate family member of Dr. Peche has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Silk Road medical .