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Article

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

Journal of neurology - 1 Aug 2020

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

Abstract excerpt

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:...

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Identifiers

PMID: 32274582
DOI: 10.1007/s00415-020-09821-4
PMCID: PMC7359151

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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