Publications:

Phenotypic and Genotypic Spectrum of Early-Onset Developmental and Epileptic Encephalopathies-Data from a Romanian Cohort.

Genes

Riza, Anca-Lelia AL; Streață, Ioana I; Roza, Eugenia E; Budișteanu, Magdalena M; Iliescu, Catrinel C; Burloiu, Carmen C; Dobrescu, Mihaela-Amelia MA; Dorobanțu, Stefania S; Dragoș, Adina A; Grigorescu, Andra A; Tătaru, Tiberiu T; Ioana, Mihai M; Teleanu, Raluca R

Publication Date: 2022-07-15

Variant appearance in text: SCN1A: 1285C>T

PubMed Link: 35886038

Variant Present in the following documents:

• genes-13-01253.pdf

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Mutations in GABAA receptor subunits associated with genetic epilepsies.

The Journal Of Physiology

Macdonald, Robert L RL; Kang, Jing-Qiong JQ; Gallagher, Martin J MJ

Publication Date: 2010-06-01

Variant appearance in text: SMEI: Q429X

PubMed Link: 20308251

Variant Present in the following documents:

• Main text

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