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
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
mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.
Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate.
Molecular Genetics & Genomic Medicine
Sanchis-Juan, Alba A; Hasenahuer, Marcia A MA; Baker, James A JA; McTague, Amy A; Barwick, Katy K; Kurian, Manju A MA; Duarte, Sofia T ST; , ; Carss, Keren J KJ; Thornton, Janet J; Raymond, F Lucy FL
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
Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.
Molecular Syndromology
Møller, Rikke S RS; Larsen, Line H G LH; Johannesen, Katrine M KM; Talvik, Inga I; Talvik, Tiina T; Vaher, Ulvi U; Miranda, Maria J MJ; Farooq, Muhammad M; Nielsen, Jens E K JE; Svendsen, Lene Lavard LL; Kjelgaard, Ditte B DB; Linnet, Karen M KM; Hao, Qin Q; Uldall, Peter P; Frangu, Mimoza M; Tommerup, Niels N; Baig, Shahid M SM; Abdullah, Uzma U; Born, Alfred P AP; Gellert, Pia P; Nikanorova, Marina M; Olofsson, Kern K; Jepsen, Birgit B; Marjanovic, Dragan D; Al-Zehhawi, Lana I K LI; Peñalva, Sofia J SJ; Krag-Olsen, Bente B; Brusgaard, Klaus K; Hjalgrim, Helle H; Rubboli, Guido G; Pal, Deb K DK; Dahl, Hans A HA
Publication Date: 2016-09
Variant appearance in text: GABRB3: 767T>A; Leu256Gln