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Article

FGF12 copy number variant associated with epileptic encephalopathy.

Clinical genetics - 1 Jul 2024

Abraham Anna, Ramsey Keri, Belnap Newell, Szelinger Szabolcs, Jepsen Wayne, Balak Chris, Sanchez-Castillo Meredith, Naymik Marcus, Bonfitto Anna, Rangasamy Sampathkumar, Kruglyak Semyon, Huentelman Matthew, Narayanan Vinodh

Abstract excerpt

FGF12 related epilepsy presents with variable phenotypes. We report another patient with a duplication involving the FGF12 gene who presented similar to other published cases having normal early development and responded to phenytoin.

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Source

Identifiers

PMID: 38715525
DOI: 10.1111/cge.14542

Genes

FGF12

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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