Neurodevelopmental outcomes in a cohort of Australian families with self-limited familial epilepsy of neonatal/infantile onset

Emily A Innes,Fleur Annette Le Marne,Rebecca Macintosh,Suzanne M. Nevin,Nancy E Briggs, Sinthu Vivekanandarajah,Richard I Webster,Rani K Sachdev,Ann M E Bye

Seizure: European Journal of Epilepsy（2024）

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摘要

•The majority (93 %) of families had a positive molecular genetic diagnosis.•Ten people (20 %) had recurrent seizures, 12–13 years from last childhood seizure.•Seven children had global developmental delay (14 %), 5 (10 %) had Autism.•The majority (82 %) have average adaptive functioning.•Predictors of adverse outcomes were high seizure burden & longer epilepsy duration.

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关键词

Familial epilepsy,Neonatal,Infantile,Seizures,Developmental delay,Channelopathy

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