Publications:

Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.

Epilepsia

Maillard, Pierre-Yves PY; Baer, Sarah S; Schaefer, Élise É; Desnous, Béatrice B; Villeneuve, Nathalie N; Lépine, Anne A; Fabre, Alexandre A; Lacoste, Caroline C; El Chehadeh, Salima S; Piton, Amélie A; Porter, Louise Frances LF; Perriard, Caroline C; Wardé, Marie-Thérèse Abi MA; Spitz, Marie-Aude MA; Laugel, Vincent V; Lesca, Gaëtan G; Putoux, Audrey A; Ville, Dorothée D; Mignot, Cyril C; Héron, Delphine D; Nabbout, Rima R; Barcia, Giulia G; Rio, Marlène M; Roubertie, Agathe A; Meyer, Pierre P; Paquis-Flucklinger, Véronique V; Patat, Olivier O; Lefranc, Jérémie J; Gerard, Marion M; , ; de Bellescize, Julietta J; Villard, Laurent L; De Saint Martin, Anne A; Milh, Mathieu M

Publication Date: 2022-10

Variant appearance in text: GABRG2: 320T>C; Ile107Thr

PubMed Link: 35718920

Variant Present in the following documents:

• EPI-63-2519-s001.xlsx, sheet 1

View BVdb publication page

Epileptic Mechanisms Shared by Alzheimer's Disease: Viewed via the Unique Lens of Genetic Epilepsy.

International Journal Of Molecular Sciences

Kang, Jing-Qiong JQ

Publication Date: 2021-07-01

Variant appearance in text: GABRG2: I107T

PubMed Link: 34281185

Variant Present in the following documents:

• Main text
• ijms-22-07133.pdf

View BVdb publication page

Missense Is No Nonsense for Epileptic Encephalopathies.

Epilepsy Currents

Pirone, Antonella A; Dulla, Chris C

Publication Date: 2017

Variant appearance in text: GABRG2: I107T

PubMed Link: 28684954

Variant Present in the following documents:

• Main text

View BVdb publication page

Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Neuroscience Bulletin

Wei, Feng F; Yan, Li-Min LM; Su, Tao T; He, Na N; Lin, Zhi-Jian ZJ; Wang, Jie J; Shi, Yi-Wu YW; Yi, Yong-Hong YH; Liao, Wei-Ping WP

Publication Date: 2017-08

Variant appearance in text: GABRG2: I107T

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

View BVdb publication page

De novo GABRG2 mutations associated with epileptic encephalopathies.

Brain : A Journal Of Neurology

Shen, Dingding D; Hernandez, Ciria C CC; Shen, Wangzhen W; Hu, Ningning N; Poduri, Annapurna A; Shiedley, Beth B; Rotenberg, Alex A; Datta, Alexandre N AN; Leiz, Steffen S; Patzer, Steffi S; Boor, Rainer R; Ramsey, Kerri K; Goldberg, Ethan E; Helbig, Ingo I; Ortiz-Gonzalez, Xilma R XR; Lemke, Johannes R JR; Marsh, Eric D ED; Macdonald, Robert L RL

Publication Date: 2017-01

Variant appearance in text: GABRG2: 320T>C; I107T

PubMed Link: 27864268

Variant Present in the following documents:

• Main text

View BVdb publication page