Publications:

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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: GABRB3: 914C>T; Ala305Val

PubMed Link: 35718920

Variant Present in the following documents:

• EPI-63-2519-s001.xlsx, sheet 1
• EPI-63-2519-s001.xlsx, sheet 4

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Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies.

Nature Communications

Absalom, Nathan L NL; Liao, Vivian W Y VWY; Johannesen, Katrine M H KMH; Gardella, Elena E; Jacobs, Julia J; Lesca, Gaetan G; Gokce-Samar, Zeynep Z; Arzimanoglou, Alexis A; Zeidler, Shimriet S; Striano, Pasquale P; Meyer, Pierre P; Benkel-Herrenbrueck, Ira I; Mero, Inger-Lise IL; Rummel, Jutta J; Chebib, Mary M; Møller, Rikke S RS; Ahring, Philip K PK

Publication Date: 2022-04-05

Variant appearance in text: GABRB3: Ala305Val

PubMed Link: 35383156

Variant Present in the following documents:

• Main text
• 41467_2022_29280_MOESM1_ESM.pdf
• 41467_2022_Article_29280.pdf

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Intricacies of GABAA Receptor Function: The Critical Role of the β3 Subunit in Norm and Pathology.

International Journal Of Molecular Sciences

Menzikov, Sergey A SA; Morozov, Sergey G SG; Kubatiev, Aslan A AA

Publication Date: 2021-02-01

Variant appearance in text: GABRB3: A305V

PubMed Link: 33535681

Variant Present in the following documents:

• Main text
• ijms-22-01457.pdf

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Genetic variations associated with pharmacoresistant epilepsy (Review).

Molecular Medicine Reports

Cárdenas-Rodríguez, Noemí N; Carmona-Aparicio, Liliana L; Pérez-Lozano, Diana L DL; Ortega-Cuellar, Daniel D; Gómez-Manzo, Saúl S; Ignacio-Mejía, Iván I

Publication Date: 2020-04

Variant appearance in text: GABRB3: 914C>T

PubMed Link: 32319641

Variant Present in the following documents:

• Main text
• mmr-21-04-1685.pdf

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GABA A Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy.

Scientific Reports

Hernandez, Ciria C CC; Zhang, Yujia Y; Hu, Ningning N; Shen, Dingding D; Shen, Wangzhen W; Liu, Xiaoyan X; Kong, Weijing W; Jiang, Yuwu Y; Macdonald, Robert L RL

Publication Date: 2017-11-21

Variant appearance in text: GABRB3: 914C>T; A305V

PubMed Link: 29162865

Variant Present in the following documents:

• Main text
• 41598_2017_16010_MOESM1_ESM.pdf
• 41598_2017_Article_16010.pdf

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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: GABRB3: A305V

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

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Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

Neurology

Møller, Rikke S RS; Wuttke, Thomas V TV; Helbig, Ingo I; Marini, Carla C; Johannesen, Katrine M KM; Brilstra, Eva H EH; Vaher, Ulvi U; Borggraefe, Ingo I; Talvik, Inga I; Talvik, Tiina T; Kluger, Gerhard G; Francois, Laurence L LL; Lesca, Gaetan G; de Bellescize, Julitta J; Blichfeldt, Susanne S; Chatron, Nicolas N; Holert, Nils N; Jacobs, Julia J; Swinkels, Marielle M; Betzler, Cornelia C; Syrbe, Steffen S; Nikanorova, Marina M; Myers, Candace T CT; Larsen, Line H G LH; Vejzovic, Sabina S; Pendziwiat, Manuela M; von Spiczak, Sarah S; Hopkins, Sarah S; Dubbs, Holly H; Mang, Yuan Y; Mukhin, Konstantin K; Holthausen, Hans H; van Gassen, Koen L KL; Dahl, Hans A HA; Tommerup, Niels N; Mefford, Heather C HC; Rubboli, Guido G; Guerrini, Renzo R; Lemke, Johannes R JR; Lerche, Holger H; Muhle, Hiltrud H; Maljevic, Snezana S

Publication Date: 2017-01-31

Variant appearance in text: GABRB3: A305V

PubMed Link: 28053010

Variant Present in the following documents:

• Main text

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Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities.

Plos One

Zhang, Yujia Y; Kong, Weijing W; Gao, Yang Y; Liu, Xiaoyan X; Gao, Kai K; Xie, Han H; Wu, Ye Y; Zhang, Yuehua Y; Wang, Jingmin J; Gao, Feng F; Wu, Xiru X; Jiang, Yuwu Y

Publication Date: 2015

Variant appearance in text: GABRB3: 914C>T; Ala305Val

PubMed Link: 26544041

Variant Present in the following documents:

• Main text
• pone.0141782.pdf

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