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Published in: Journal of Neurology 8/2020

Open Access 01-08-2020 | Electroencephalography | Original Communication

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

Authors: Antonietta Coppola, Laura Hernandez-Hernandez, Simona Balestrini, S. Krithika, Nicholas Moran, Blake Hale, Carla Cordivari, Sanjay M. Sisodiya

Published in: Journal of Neurology | Issue 8/2020

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Abstract

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.
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Metadata
Title
Cortical myoclonus and epilepsy in a family with a new SLC20A2 mutation
Authors
Antonietta Coppola
Laura Hernandez-Hernandez
Simona Balestrini
S. Krithika
Nicholas Moran
Blake Hale
Carla Cordivari
Sanjay M. Sisodiya
Publication date
01-08-2020
Publisher
Springer Berlin Heidelberg
Published in
Journal of Neurology / Issue 8/2020
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-020-09821-4

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