article_metadata: Chi-Ting Chung Ni-Chung Lee Sung-Pin Fan Miao-Zi Hung Yen-Heng Lin Chih-Hao Chen Tun Jao
article_metadata: 10.1016/j.ebr.2022.100580
article_metadata: Epilepsy Behav Rep
article_metadata: 2022 Dec 28;21:100580.
article_metadata: 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
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/36636459/
article_metadata: Case Reports
article_metadata: PMC9829698
article_metadata: 36636459
article_metadata: DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrum
article_metadata: 2022