Coppola_et_al_2020.pdf (1.58 MB)
Cortical myoclonus and epilepsy in a family with a new SLC20A2 mutation
journal contributionposted on 2023-07-26, 15:09 authored by Antonietta Coppola, Laura Hernandez-Hernandez, Simona Balestrini, S. Krithika, Nicholas Moran, Blake Hale, Carla Cordivari, Sanjay M. Sisodiya
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.
Publication titleJournal of Neurology
- Published version