Severe Epilepsy and Movement Disorder May Be Early Symptoms of TMEM106B-Related Hypomyelinating Leukodystrophy
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DOI: 10.1212/nxg.0000000000200022
Abstract: Objective To report the clinical presentation of the first Italian child affected by hypomyelinating leukodystrophy (HLD) associated with the recurrent variant p.Asp252Asn in the TMEM106B gene. Methods The methods included clinical case description, neurophysiologic assessment,… read more here.
Keywords: movement; tmem106b; may early; early symptoms ... See more keywords