Two Missense CACNA1A Variants in a Single Family with Variable Neurobehavioral, Cerebellar, Epileptic, and Oculomotor Features.

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.

Prognostic Value of Preoperative and Postoperative Electroencephalography Findings in Pediatric Patients Undergoing Hemispheric Epilepsy Surgery.

OBJECTIVE: The seizure outcomes after hemispheric epilepsy surgery have been excellent, with 54%-90% of patients achieving long-term freedom from seizures. Similarly, the neuropsychological outcomes have been favorable. The prognostic value of pre- and postoperative electroencephalography (EEG) has not been well-studied. In the present study, we characterized the value of the pre- and postoperative EEG findings for predicting the seizure and neuropsychological outcomes for pediatric patients undergoing hemispherectomy. METHODS: A total of 22 children who had undergone functional hemispherectomy at our institution from 2010 to 2020 were included. The ictal and interictal findings were categorized as ipsilateral to the operated hemisphere, independently arising from the contralateral hemisphere, and/or generalized. The seizure outcomes were classified using the Engel scale. All neuropsychological evaluations were performed in accordance with our institution's protocol. The relationship between the EEG findings and outcomes was analyzed. RESULTS: Of the 22 patients, 19 (86%) were seizure free (Engel class IA) at the latest follow-up (mean, 4.2 years). On the preoperative EEGs, 9 had had seizures, all had had ipsilateral interictal discharges, and 9 had had contralateral interictal discharges. On the postoperative EEGs, obtained a median of 1 year after surgery, 3 had had seizures, 16 had had ipsilateral interictal discharges, and 5 had had contralateral interictal discharges. Of the 3 patients with seizures found on the postoperative EEG, all were clinically free of seizures. The patients who had not achieved Engel class IA were not significantly more likely to have abnormalities found on the EEG. The neuropsychological scores were stable from before to after surgery, with no evidence of EEG abnormalities having predictive value. CONCLUSIONS: The seizure and neuropsychology outcomes after hemispherectomy were excellent in our study, with 86% of our cohort achieving freedom from seizures. The presence, lateralization, and evolution of pre- and postoperative EEG abnormalities were not predictive of the outcomes.

Hemorrhagic Transformation Following Childhood Cardioembolic Stroke Is Not Increased in Anticoagulated Patients.

OBJECTIVE: To characterize the risk of hemorrhagic transformation following cardioembolic stroke in childhood, and whether anticoagulation impacts that risk. METHODS: Ninety-five children (1 month-18 years) with cardioembolic arterial ischemic stroke between January 1, 2009, and December 31, 2019, at 2 institutions were identified for retrospective chart review. Neuroimaging was reviewed to assess for hemorrhagic transformation. RESULTS: There were 11 cases of hemorrhagic transformation; 8 occurred within 2 days of stroke diagnosis. Risk of hemorrhagic transformation did not differ in patients with and without anticoagulation use (15% vs 9%, estimated risk difference 5%; CI -9%, 19%). Stroke size did not predict hemorrhagic transformation (OR 1.004, 95% CI 0.997, 1.010). Risk of hemorrhagic transformation was higher in strokes that occurred in the inpatient compared with the outpatient setting (16% vs 6%). CONCLUSION: Hemorrhagic transformation occurred in 11% of pediatric cardioembolic ischemic stroke, usually within 2 days of stroke diagnosis, and was not associated with anticoagulation or stroke size.