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Article

Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy.

Human mutation - 1 Jun 2013

Milh Mathieu, Falace Antonio, Villeneuve Nathalie, Vanni Nicola, Cacciagli Pierre, Assereto Stefania, Nabbout Rima, Benfenati Fabio, Zara Federico, Chabrol Brigitte, Villard Laurent, Fassio Anna

Abstract excerpt

Early-onset epileptic encephalopathies (EOEEs) are a group of rare devastating epileptic syndromes of infancy characterized by severe drug-resistant seizures and electroencephalographic abnormalities. The current study aims to determine the genetic etiology of a familial form of EOEE fulfilling t...

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PMID: 23526554
DOI: 10.1002/humu.22318

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23526554-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy.PMID 23526554Read ↗

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