Publications:

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GABRG2 Variants Associated with Febrile Seizures.

Biomolecules

Hernandez, Ciria C CC; Shen, Yanwen Y; Hu, Ningning N; Shen, Wangzhen W; Narayanan, Vinodh V; Ramsey, Keri K; He, Wen W; Zou, Liping L; Macdonald, Robert L RL

Publication Date: 2023-02-22

Variant appearance in text: GABRG2: P282S

PubMed Link: 36979350

Variant Present in the following documents:

• biomolecules-13-00414.pdf

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: GABRG2: 844C>T; P282S

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

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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: 844C>T; Pro282Ser

PubMed Link: 35718920

Variant Present in the following documents:

• EPI-63-2519-s001.xlsx, sheet 1

View BVdb publication page

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Genetic cause of epilepsy in a Greek cohort of children and young adults with heterogeneous epilepsy syndromes.

Epilepsy & Behavior Reports

Zaganas, Ioannis I; Vorgia, Pelagia P; Spilioti, Martha M; Mathioudakis, Lambros L; Raissaki, Maria M; Ilia, Stavroula S; Giorgi, Melpomeni M; Skoula, Irene I; Chinitrakis, Georgios G; Michaelidou, Kleita K; Paraskevoulakos, Evangelos E; Grafakou, Olga O; Kariniotaki, Chariklia C; Psyllou, Thekla T; Zafeiris, Spiros S; Tzardi, Maria M; Briassoulis, George G; Dinopoulos, Argirios A; Mitsias, Panayiotis P; Evangeliou, Athanasios A

Publication Date: 2021

Variant appearance in text: GABRG2: Pro282Ser

PubMed Link: 34568804

Variant Present in the following documents:

• Main text
• main.pdf

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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: P282S

PubMed Link: 34281185

Variant Present in the following documents:

• Main text
• ijms-22-07133.pdf

View BVdb publication page

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Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Molecular Neurobiology

Zhang, Yi Y; Wang, Tao T; Wang, Yan Y; Xia, Kun K; Li, Jinchen J; Sun, Zhongsheng Z

Publication Date: 2021-08

Variant appearance in text: GABRG2: 844C>T; P282S

PubMed Link: 33860439

Variant Present in the following documents:

• 12035_2021_2377_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies.

Brain : A Journal Of Neurology

Hernandez, Ciria C CC; XiangWei, Wenshu W; Hu, Ningning N; Shen, Dingding D; Shen, Wangzhen W; Lagrange, Andre H AH; Zhang, Yujia Y; Dai, Lifang L; Ding, Changhong C; Sun, Zhaohui Z; Hu, Jiasheng J; Zhu, Hongmin H; Jiang, Yuwu Y; Macdonald, Robert L RL

Publication Date: 2019-07-01

Variant appearance in text: GABRG2: P282S

PubMed Link: 31056671

Variant Present in the following documents:

• Main text

View BVdb publication page

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Missense Is No Nonsense for Epileptic Encephalopathies.

Epilepsy Currents

Pirone, Antonella A; Dulla, Chris C

Publication Date: 2017

Variant appearance in text: GABRG2: P282S

PubMed Link: 28684954

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: P282S

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 844C>T; P282S

PubMed Link: 27864268

Variant Present in the following documents:

• Main text

View BVdb publication page

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