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Article

Short- and long-interval intracortical inhibition in EPM1 is related to genotype.

Epilepsia - 1 Jan 2023

Silvennoinen Katri, Säisänen Laura, Hyppönen Jelena, Rissanen Saara M, Karjalainen Pasi A, D'Ambrosio Sasha, Jimenez-Jimenez Diego, Zagaglia Sara, Rothwell John C, Balestrini Simona, Sisodiya Sanjay M, Julkunen Petro, Mervaala Esa, Kälviäinen Reetta

Abstract excerpt

OBJECTIVE: Progressive myoclonic epilepsy type 1 (EPM1) is caused by biallelic alterations in the CSTB gene, most commonly dodecamer repeat expansions. Although transcranial magnetic stimulation (TMS)-induced long-interval intracortical inhibition (LICI) was previously reported to be normal in EPM1, short-interval intracortical inhibition (SICI) was reduced. We explored the association between these measures and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36398398
DOI: 10.1111/epi.17466
PMCID: PMC10107775

Genes

CSTB
GRN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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