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Article

Electroclinical phenotypes and outcomes in TBC1D24-related epilepsy.

Epileptic disorders : international epilepsy journal with videotape - 1 Sept 2016

Appavu Brian, Guido-Estrada Natalie, Lindstrom Kristin, Grebe Theresa, Kerrigan John F, Troester Matthew

Abstract excerpt

TBC1D24 is a newly recognized gene in which variations lead to variable clinical phenotypes including drug-resistant epilepsy. We report four patients with novel variants of TBC1D24 demonstrating drug-resistant focal epilepsy, developmental delays, and head growth deceleration. All patients had seizure semiologies consisting of prolonged, unilateral, focal clonic activity of the arm, leg or face, in addition to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27502353
DOI: 10.1684/epd.2016.0849

Provenance

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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