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PAK3 Pathogenic Variant Associated with Sleep-Related Hypermotor Epilepsy in a Family with Parental Mosaicism

Antonio Gambardella, Yu-Chi Liu,Mark F. Bennett,Timothy E. Green,John A. Damiano,Francesco Fortunato,Matthew J. Coleman,Jacqueline Cherfils,Jean-Vianney Barnier,Jozef Gecz,Melanie Bahlo, Samuel F. Berkovic,Michael S. Hildebrand

EPILEPSIA OPEN（2025）

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关键词
facial dysmorphism,genetic counseling,<italic>PAK3</italic>,parental mosaicism,sleep-related hypermotor epilepsy
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