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

Coppola, Antonietta and Hernandez-Hernandez, Laura and Balestrini, Simona and Krithika, S. and Moran, Nicholas and Hale, Blake and Cordivari, Carla and Sisodiya, Sanjay M. (2020) Cortical myoclonus and epilepsy in a family with a new SLC20A2 mutation. Journal of Neurology, 267 (8). pp. 2221-2227. ISSN 1432-1459

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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. The syndrome is genetically and phenotypically heterogeneous. Causal mutations have been identified in four genes: SLC20A2, PDGFRB, PDGFB and XPR1. A variety of progressive neurological and psychiatric symptoms have been described, including cognitive impairment, movement disorders, bipolar disorder, chronic headaches and migraine, and epilepsy. Here we describe a family with a novel SLC20A2 mutation mainly presenting with neurological symptoms including cortical myoclonus and epilepsy. While epilepsy, although rare, has been reported in patients with IBGC associated with SLC20A2 mutations, cortical myoclonus seems to be a new manifestation.

Item Type: Journal Article
Keywords: SLC20A2, Brain calcifications, Epilepsy, Cortical myoclonus, Exome sequencing
Faculty: Faculty of Science & Engineering
Depositing User: Lisa Blanshard
Date Deposited: 20 Oct 2020 09:09
Last Modified: 20 Jan 2021 11:34

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