Severe Epilepsy and Movement Disorder May Be Early Symptoms of TMEM106B-Related Hypomyelinating Leukodystrophy

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, brain MRI, and whol...

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Detalles Bibliográficos
Autores principales: Solazzi, Roberta, Moscatelli, Marco, Sebastiano, Davide Rossi, Canafoglia, Laura, Pezzoli, Laura, Iascone, Maria, Granata, Tiziana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
Clinical/Scientific Note
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9425219/
https://www.ncbi.nlm.nih.gov/pubmed/36046422
http://dx.doi.org/10.1212/NXG.0000000000200022

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9425219/
https://www.ncbi.nlm.nih.gov/pubmed/36046422
http://dx.doi.org/10.1212/NXG.0000000000200022

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