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Case Report: Childhood Epilepsy and Borderline Intellectual Functioning Hiding an AADC Deficiency Disorder Associated with Compound Heterozygous DDC Gene Pathogenic Variants

Ida Cursio,Sabrina Siliquini,Claudia Carducci,Giovanni Bisello,Mario Mastrangelo,Vincenzo Leuzzi,Mariarita Bertoldi,Carla Marini

FRONTIERS IN NEUROLOGY（2023）

引用 2|浏览22
关键词
epilepsy,focal seizures,AADC deficiency,DDC gene,compound heterozygous variants,autonomic dysfunction
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