Cortical myoclonus and epilepsy in a family with a new SLC20A2 mutation

Idiopathic basal ganglia calcification (IBGC) or primary familial brain calcification is a rare genetic condition characterized by an autosomal dominant inheritance pattern and the presence of bilateral calcifications in the basal ganglia, thalami, cerebellum and cerebral subcortical white matter. T...

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發表在:J Neurol
Main Authors: Coppola, Antonietta, Hernandez-Hernandez, Laura, Balestrini, Simona, Krithika, S., Moran, Nicholas, Hale, Blake, Cordivari, Carla, Sisodiya, Sanjay M.
格式: Artigo
語言:Inglês
出版: Springer Berlin Heidelberg 2020
主題:
Original Communication
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC7359151/
https://ncbi.nlm.nih.gov/pubmed/32274582
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00415-020-09821-4
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