Spinal muscular atrophy with progressive myoclonic epilepsy: A case report from China with new ASAH1 variants

Spinal muscular atrophy with progressive myoclonic epilepsy: A case report from China with new ASAH1 variants

We report a case of a Chinese girl who presented with multiple seizure types of epilepsy, followed by motor and intellectual regression, vision impairment, and cerebral and cerebellar atrophy. She carries an unreported compound heterozygous variant of the ASAH1 gene and is diagnosed with spinal musc...

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Bibliographic Details
Main Authors: Xiaojing Yin, Jinghe Shi, Daoqi Mei, Jianmei Guo, Tingting Ma, Yuna Gao, Li Wang, Jie Deng
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Heliyon
Subjects:
SMA-PME
ASAH1
Acid ceramidase
Epilepsy
Electroencephalography
Case report
Online Access:http://www.sciencedirect.com/science/article/pii/S2405844024170636
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