Chi-Ting Chung Ni-Chung Lee Sung-Pin Fan Miao-Zi Hung Yen-Heng Lin Chih-Hao Chen Tun Jao
10.1016/j.ebr.2022.100580
Epilepsy Behav Rep
2022 Dec 28;21:100580.
cmt, charcot–marie–tooth disease eeg, electroencephalography epilepsy id, intellectual disability intellectual disability mcd, malformation of cortical development mri, magnetic resonance imaging malformations of cortical development neurodevelopmental delay pathogenic dync1h1 variant smaled, spinal muscular atrophy with lower extremity-predominance
CC BY
https://pubmed.ncbi.nlm.nih.gov/36636459/
Case Reports
PMC9829698
36636459
DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrum
2022