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Article

GRIA3 missense mutation is cause of an x-linked developmental and epileptic encephalopathy.

Seizure - 1 Nov 2020

Trivisano Marina, Santarone Marta Elena, Micalizzi Alessia, Ferretti Alessandro, Dentici Maria Lisa, Novelli Antonio, Vigevano Federico, Specchio Nicola

Abstract excerpt

PURPOSE: GRIA3, encoding subunit 3 of glutamate ionotropic AMPA receptor, is associated with X-linked intellectual disability (ID), dysmorphic features, and non-syndromic epilepsy. We aimed to characterize electro-clinical features of patients with GRIA3 variants. METHODS: We report a patient carrying a hemizygous missense variant c.2359 G > A (p.Glu787Lys) inGRIA3 gene. Following a literature search, we also...

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Identifiers

PMID: 32977175
DOI: 10.1016/j.seizure.2020.08.032

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