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- [1] Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizuresBRAIN, 2019, 142Maljevic, Snezana论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, Australia Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, AustraliaKeren, Boris论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, AP HP, Ctr Reference Deficience Intellectuelle Causes Ra, GRC UPMC Deficience Intellectuelle & Autisme,Dept, Paris, France Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, AustraliaAung, Ye Htet论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, Australia Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, AustraliaForster, Ian C.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, Australia Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, AustraliaMignot, Cyril论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, AP HP, Ctr Reference Deficience Intellectuelle Causes Ra, GRC UPMC Deficience Intellectuelle & Autisme,Dept, Paris, France Sorbonne Univ, Inst Cerveau & Moelle Epiniere, ICM, INSERM,U1127,CNRS,UMR 7225, F-75013 Paris, France Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, AustraliaBuratti, Julien论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, AP HP, Ctr Reference Deficience Intellectuelle Causes Ra, GRC UPMC Deficience Intellectuelle & Autisme,Dept, Paris, France Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, AustraliaLafitte, Aurelie论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, AP HP, Ctr Reference Deficience Intellectuelle Causes Ra, GRC UPMC Deficience Intellectuelle & Autisme,Dept, Paris, France Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, AustraliaFreihuber, Cecile论文数: 0 引用数: 0 h-index: 0机构: Hop Trousseau, AP HP, Serv Neuropediat, Paris, France Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, AustraliaRodan, Lance H.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, AustraliaBergin, Ann论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Div Epilepsy & Clin Neurophysiol, Boston, MA 02115 USA Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, AustraliaHubert, Laurence论文数: 0 引用数: 0 h-index: 0机构: Paris Descartes Univ, Translat Genet Lab, Imagine Inst, INSERM,UMR 1163, Paris, France Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, AustraliaPoirier, Karine论文数: 0 引用数: 0 h-index: 0机构: Paris Descartes Univ, Translat Genet Lab, Imagine Inst, INSERM,UMR 1163, Paris, France Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, AustraliaMunnich, Arnold论文数: 0 引用数: 0 h-index: 0机构: Paris Descartes Univ, Translat Genet Lab, Imagine Inst, INSERM,UMR 1163, Paris, France Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, AustraliaBesmond, Claude论文数: 0 引用数: 0 h-index: 0机构: Paris Descartes Univ, Translat Genet Lab, Imagine Inst, INSERM,UMR 1163, Paris, France Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, AustraliaHauser, Natalie论文数: 0 引用数: 0 h-index: 0机构: Inova Translat Med Inst, Inova Hlth Syst, Falls Church, VA USA Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, AustraliaMiller, Rebecca论文数: 0 引用数: 0 h-index: 0机构: Inova Translat Med Inst, Inova Hlth Syst, Falls Church, VA USA Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, AustraliaMcWalter, Kirsty论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, AustraliaNabbout, Rima论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, AP HP, Ctr Reference Epilesies Rares, Serv Neurol Pediat, Paris, France Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, AustraliaHeron, Delphine论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, AP HP, Ctr Reference Deficience Intellectuelle Causes Ra, GRC UPMC Deficience Intellectuelle & Autisme,Dept, Paris, France Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, AustraliaLeguern, Eric论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, AP HP, Ctr Reference Deficience Intellectuelle Causes Ra, GRC UPMC Deficience Intellectuelle & Autisme,Dept, Paris, France Sorbonne Univ, Inst Cerveau & Moelle Epiniere, ICM, INSERM,U1127,CNRS,UMR 7225, F-75013 Paris, France Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, AustraliaDepienne, Christel论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Inst Cerveau & Moelle Epiniere, ICM, INSERM,U1127,CNRS,UMR 7225, F-75013 Paris, France Univ Duisburg Essen, Univ Hosp Essen, Inst Human Genet, Essen, Germany Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, Australia论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:
- [2] Reply: Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizuresBRAIN, 2019, 142Jenkins, Andrew论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Dept Anesthesiol, Atlanta, GA 30322 USA Emory Univ, Dept Pharmacol & Chem Biol, Atlanta, GA 30322 USA Emory Univ, Dept Anesthesiol, Atlanta, GA 30322 USAEscayg, Andrew论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Dept Human Genet, 615 Michael St,Room 361, Atlanta, GA 30322 USA Emory Univ, Dept Anesthesiol, Atlanta, GA 30322 USA
- [3] A novel de novo GABRA2 gene missense variant causing developmental epileptic encephalopathy in a Chinese patientANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2025, 12 (01): : 137 - 148Yang, Li论文数: 0 引用数: 0 h-index: 0机构: Anhui Med Univ, Affiliated Hosp 1, Dept Pediat, Hefei 230022, Anhui, Peoples R China Peoples Hosp Hanshan Cty, Dept Pediat, Hanshan, Anhui, Peoples R China Anhui Med Univ, Affiliated Hosp 1, Dept Pediat, Hefei 230022, Anhui, Peoples R ChinaWan, Xingyu论文数: 0 引用数: 0 h-index: 0机构: Anhui Med Univ, Sch Clin Med 2, Hefei, Anhui, Peoples R China Anhui Med Univ, Affiliated Hosp 1, Dept Pediat, Hefei 230022, Anhui, Peoples R ChinaHua, Ran论文数: 0 引用数: 0 h-index: 0机构: Anhui Med Univ, Affiliated Hosp 1, Dept Pediat, Hefei 230022, Anhui, Peoples R China Anhui Med Univ, Affiliated Hosp 1, Dept Pediat, Hefei 230022, Anhui, Peoples R ChinaJiang, Junhong论文数: 0 引用数: 0 h-index: 0机构: Anhui Med Univ, Affiliated Hosp 1, Dept Pediat, Hefei 230022, Anhui, Peoples R China Anhui Med Univ, Affiliated Hosp 1, Dept Pediat, Hefei 230022, Anhui, Peoples R ChinaWang, Baotian论文数: 0 引用数: 0 h-index: 0机构: Anhui Med Univ, Affiliated Hosp 1, Dept Pediat, Hefei 230022, Anhui, Peoples R China Anhui Med Univ, Affiliated Hosp 1, Dept Pediat, Hefei 230022, Anhui, Peoples R ChinaTao, Rui论文数: 0 引用数: 0 h-index: 0机构: Anhui Med Univ, Dept Psychiat, Chaohu Hosp, Hefei, Peoples R China Anhui Med Univ, Sch Mental Hlth & Psychol Sci, Dept Psychiat, Hefei, Peoples R China Anhui Psychiat Ctr, Dept Psychiat, Hefei, Peoples R China Anhui Med Univ, Affiliated Hosp 1, Dept Pediat, Hefei 230022, Anhui, Peoples R ChinaWu, De论文数: 0 引用数: 0 h-index: 0机构: Anhui Med Univ, Affiliated Hosp 1, Dept Pediat, Hefei 230022, Anhui, Peoples R China Anhui Med Univ, Affiliated Hosp 1, Dept Pediat, Hefei 230022, Anhui, Peoples R China
- [4] A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorderEUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2018, 22 (03) : 516 - 524Orenstein, Naama论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Pediat Genet Clin, IL-4920235 Petah Tiqwa, Israel Tel Aviv Univ, Sackler Fac Med, IL-6997801 Tel Aviv, Israel Schneider Childrens Med Ctr Israel, Pediat Genet Clin, IL-4920235 Petah Tiqwa, IsraelGoldberg-Stern, Hadassa论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Pediat Genet Clin, IL-4920235 Petah Tiqwa, Israel Tel Aviv Univ, Sackler Fac Med, IL-6997801 Tel Aviv, Israel Schneider Childrens Med Ctr Israel, Neurol Inst, Pediat Epilepsy Unit, IL-4920235 Petah Tiqwa, Israel Schneider Childrens Med Ctr Israel, Pediat Genet Clin, IL-4920235 Petah Tiqwa, IsraelStraussberg, Rachel论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Pediat Genet Clin, IL-4920235 Petah Tiqwa, Israel Tel Aviv Univ, Sackler Fac Med, IL-6997801 Tel Aviv, Israel Schneider Childrens Med Ctr Israel, Neurol Inst, Neurogenet Serv, IL-4920235 Petah Tiqwa, Israel Schneider Childrens Med Ctr Israel, Pediat Genet Clin, IL-4920235 Petah Tiqwa, IsraelBazak, Lily论文数: 0 引用数: 0 h-index: 0机构: Beilinson Med Ctr, Rabin Med Ctr, Raphael Recanati Genet Inst, IL-4941492 Petah Tiqwa, Israel Bar Ilan Univ, Mina & Everard Goodman Fac Life Sci, IL-5290002 Ramat Gan, Israel Schneider Childrens Med Ctr Israel, Dept Hematol Oncol, IL-4920235 Petah Tiqwa, Israel Rabin Med Ctr, Felsenstein Med Res Ctr, IL-4941492 Petah Tiqwa, Israel Schneider Childrens Med Ctr Israel, Pediat Genet Clin, IL-4920235 Petah Tiqwa, IsraelHubshman, Monika Weisz论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Pediat Genet Clin, IL-4920235 Petah Tiqwa, Israel Tel Aviv Univ, Sackler Fac Med, IL-6997801 Tel Aviv, Israel Beilinson Med Ctr, Rabin Med Ctr, Raphael Recanati Genet Inst, IL-4941492 Petah Tiqwa, Israel Rabin Med Ctr, Felsenstein Med Res Ctr, IL-4941492 Petah Tiqwa, Israel Schneider Childrens Med Ctr Israel, Pediat Genet Clin, IL-4920235 Petah Tiqwa, IsraelKropach, Nesia论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Pediat Genet Clin, IL-4920235 Petah Tiqwa, Israel Tel Aviv Univ, Sackler Fac Med, IL-6997801 Tel Aviv, Israel Schneider Childrens Med Ctr Israel, Pediat Genet Clin, IL-4920235 Petah Tiqwa, IsraelGilad, Oded论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Pediat Genet Clin, IL-4920235 Petah Tiqwa, Israel Tel Aviv Univ, Sackler Fac Med, IL-6997801 Tel Aviv, Israel Schneider Childrens Med Ctr Israel, Pediat Genet Clin, IL-4920235 Petah Tiqwa, IsraelScheuerman, Oded论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Sackler Fac Med, IL-6997801 Tel Aviv, Israel Schneider Childrens Med Ctr Israel, Dept Pediat B, IL-4920235 Petah Tiqwa, Israel Schneider Childrens Med Ctr Israel, Pediat Genet Clin, IL-4920235 Petah Tiqwa, IsraelDory, Yahav论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Pediat Genet Clin, IL-4920235 Petah Tiqwa, Israel Schneider Childrens Med Ctr Israel, Pediat Genet Clin, IL-4920235 Petah Tiqwa, IsraelKraus, Dror论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Pediat Genet Clin, IL-4920235 Petah Tiqwa, Israel Tel Aviv Univ, Sackler Fac Med, IL-6997801 Tel Aviv, Israel Schneider Childrens Med Ctr Israel, Neurol Inst, Pediat Epilepsy Unit, IL-4920235 Petah Tiqwa, Israel Schneider Childrens Med Ctr Israel, Pediat Genet Clin, IL-4920235 Petah Tiqwa, IsraelTzur, Shay论文数: 0 引用数: 0 h-index: 0机构: Bar Ilan Univ, Mina & Everard Goodman Fac Life Sci, IL-5290002 Ramat Gan, Israel Rambam Hlth Care Campus, Lab Mol Med, IL-3109601 Haifa, Israel Emedgene Technol, Genom Res Dept, Tel Aviv, Israel Schneider Childrens Med Ctr Israel, Pediat Genet Clin, IL-4920235 Petah Tiqwa, IsraelMagal, Nurit论文数: 0 引用数: 0 h-index: 0机构: Beilinson Med Ctr, Rabin Med Ctr, Raphael Recanati Genet Inst, IL-4941492 Petah Tiqwa, Israel Rabin Med Ctr, Felsenstein Med Res Ctr, IL-4941492 Petah Tiqwa, Israel Schneider Childrens Med Ctr Israel, Pediat Genet Clin, IL-4920235 Petah Tiqwa, IsraelKilim, Yael论文数: 0 引用数: 0 h-index: 0机构: Beilinson Med Ctr, Rabin Med Ctr, Raphael Recanati Genet Inst, IL-4941492 Petah Tiqwa, Israel Rabin Med Ctr, Felsenstein Med Res Ctr, IL-4941492 Petah Tiqwa, Israel Schneider Childrens Med Ctr Israel, Pediat Genet Clin, IL-4920235 Petah Tiqwa, IsraelZemer, Vered Shkalim论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Sackler Fac Med, IL-6997801 Tel Aviv, Israel Schneider Childrens Med Ctr Israel, Dept Hematol Oncol, IL-4920235 Petah Tiqwa, Israel Schneider Childrens Med Ctr Israel, Pediat Genet Clin, IL-4920235 Petah Tiqwa, IsraelBasel-Salmon, Lina论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Pediat Genet Clin, IL-4920235 Petah Tiqwa, Israel Tel Aviv Univ, Sackler Fac Med, IL-6997801 Tel Aviv, Israel Beilinson Med Ctr, Rabin Med Ctr, Raphael Recanati Genet Inst, IL-4941492 Petah Tiqwa, Israel Rabin Med Ctr, Felsenstein Med Res Ctr, IL-4941492 Petah Tiqwa, Israel Schneider Childrens Med Ctr Israel, Pediat Genet Clin, IL-4920235 Petah Tiqwa, Israel
- [5] Gabra2 is a genetic modifier of Scn8a encephalopathy in the mouse*EPILEPSIA, 2020, 61 (12) : 2847 - 2856Yu, Wenxi论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48104 USA Univ Michigan, Dept Human Genet, Ann Arbor, MI 48104 USAHill, Sophie F.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48104 USA Univ Michigan, Neurosci Grad Program, Ann Arbor, MI 48109 USA Univ Michigan, Dept Human Genet, Ann Arbor, MI 48104 USAXenakis, James G.论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USA Univ Michigan, Dept Human Genet, Ann Arbor, MI 48104 USAPardo-Manuel de Villena, Fernando论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USA Univ Michigan, Dept Human Genet, Ann Arbor, MI 48104 USAWagnon, Jacy L.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48104 USA Ohio State Univ, Dept Neurosci, Columbus, OH 43210 USA Univ Michigan, Dept Human Genet, Ann Arbor, MI 48104 USAMeisler, Miriam H.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48104 USA Univ Michigan, Neurosci Grad Program, Ann Arbor, MI 48109 USA Univ Michigan, Dept Human Genet, Ann Arbor, MI 48104 USA
- [6] Biallelic SZT2 variants in a child with developmental and epileptic encephalopathyEPILEPTIC DISORDERS, 2020, 22 (04) : 501 - 505Tanaka, Ryosuke论文数: 0 引用数: 0 h-index: 0机构: Asahikawa Med Univ, Dept Pediat, 1-1-1 Midorigaoka Higashi, Asahikawa, Hokkaido 0788510, Japan Asahikawa Med Univ, Dept Pediat, 1-1-1 Midorigaoka Higashi, Asahikawa, Hokkaido 0788510, JapanTakahashi, Satoru论文数: 0 引用数: 0 h-index: 0机构: Asahikawa Med Univ, Dept Pediat, 1-1-1 Midorigaoka Higashi, Asahikawa, Hokkaido 0788510, Japan Asahikawa Med Univ, Dept Pediat, 1-1-1 Midorigaoka Higashi, Asahikawa, Hokkaido 0788510, JapanKuroda, Mami论文数: 0 引用数: 0 h-index: 0机构: Asahikawa Med Univ, Dept Pediat, 1-1-1 Midorigaoka Higashi, Asahikawa, Hokkaido 0788510, Japan Asahikawa Med Univ, Dept Pediat, 1-1-1 Midorigaoka Higashi, Asahikawa, Hokkaido 0788510, JapanTakeguchi, Ryo论文数: 0 引用数: 0 h-index: 0机构: Asahikawa Med Univ, Dept Pediat, 1-1-1 Midorigaoka Higashi, Asahikawa, Hokkaido 0788510, Japan Asahikawa Med Univ, Dept Pediat, 1-1-1 Midorigaoka Higashi, Asahikawa, Hokkaido 0788510, JapanSuzuki, Nao论文数: 0 引用数: 0 h-index: 0机构: Asahikawa Med Univ, Dept Pediat, 1-1-1 Midorigaoka Higashi, Asahikawa, Hokkaido 0788510, Japan Asahikawa Med Univ, Dept Pediat, 1-1-1 Midorigaoka Higashi, Asahikawa, Hokkaido 0788510, JapanMakita, Yoshio论文数: 0 引用数: 0 h-index: 0机构: Asahikawa Med Univ, Educ Ctr, Asahikawa, Hokkaido, Japan Asahikawa Med Univ, Dept Pediat, 1-1-1 Midorigaoka Higashi, Asahikawa, Hokkaido 0788510, JapanNarumi-Kishimoto, Yoko论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Child Hlth & Dev, Med Genome Ctr, Tokyo, Japan Asahikawa Med Univ, Dept Pediat, 1-1-1 Midorigaoka Higashi, Asahikawa, Hokkaido 0788510, JapanKaname, Tadashi论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Child Hlth & Dev, Dept Genome Med, Tokyo, Japan Asahikawa Med Univ, Dept Pediat, 1-1-1 Midorigaoka Higashi, Asahikawa, Hokkaido 0788510, Japan
- [7] The Biallelic Inheritance of Two Novel SCN1A Variants Results in Developmental and Epileptic Encephalopathy Responsive to LevetiracetamBIOMEDICINES, 2024, 12 (08)Dinoi, Giorgia论文数: 0 引用数: 0 h-index: 0机构: Univ Bari Aldo Moro, Dept Pharm Drug Sci, I-70125 Bari, Italy Univ Bari Aldo Moro, Dept Pharm Drug Sci, I-70125 Bari, ItalyConte, Elena论文数: 0 引用数: 0 h-index: 0机构: Univ Bari Aldo Moro, Dept Pharm Drug Sci, I-70125 Bari, Italy Univ Bari Aldo Moro, Dept Pharm Drug Sci, I-70125 Bari, ItalyPalumbo, Orazio论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, I-71013 San Giovanni Rotondo, Italy Univ Bari Aldo Moro, Dept Pharm Drug Sci, I-70125 Bari, ItalyBenvenuto, Mario论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, I-71013 San Giovanni Rotondo, Italy Univ Bari Aldo Moro, Dept Pharm Drug Sci, I-70125 Bari, ItalyCoppola, Maria Antonietta论文数: 0 引用数: 0 h-index: 0机构: Univ Bari Aldo Moro, Dept Pharm Drug Sci, I-70125 Bari, Italy Univ Bari Aldo Moro, Dept Pharm Drug Sci, I-70125 Bari, ItalyPalumbo, Pietro论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, I-71013 San Giovanni Rotondo, Italy Univ Bari Aldo Moro, Dept Pharm Drug Sci, I-70125 Bari, ItalyLastella, Patrizia论文数: 0 引用数: 0 h-index: 0机构: AOU Policlin Consorziale Bari, UOC Med Interna Univ C Frugoni, Ctr Sovraziendale Malattie Rare, I-70124 Bari, Italy Univ Bari Aldo Moro, Dept Pharm Drug Sci, I-70125 Bari, ItalyBoccanegra, Brigida论文数: 0 引用数: 0 h-index: 0机构: Univ Bari Aldo Moro, Dept Pharm Drug Sci, I-70125 Bari, Italy Univ Bari Aldo Moro, Dept Pharm Drug Sci, I-70125 Bari, ItalyDi Muro, Ester论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, I-71013 San Giovanni Rotondo, Italy Univ Bari Aldo Moro, Dept Pharm Drug Sci, I-70125 Bari, ItalyCastori, Marco论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, I-71013 San Giovanni Rotondo, Italy Univ Bari Aldo Moro, Dept Pharm Drug Sci, I-70125 Bari, ItalyCarella, Massimo论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, I-71013 San Giovanni Rotondo, Italy Univ Bari Aldo Moro, Dept Pharm Drug Sci, I-70125 Bari, ItalySciruicchio, Vittorio论文数: 0 引用数: 0 h-index: 0机构: Osped San Paolo Bari, Children Epilepsy & EEG Ctr, I-70123 Bari, Italy Univ Bari Aldo Moro, Dept Pharm Drug Sci, I-70125 Bari, Italyde Tommaso, Marina论文数: 0 引用数: 0 h-index: 0机构: Univ Bari Aldo Moro, DiBraiN Dept, I-70124 Bari, Italy Univ Bari Aldo Moro, Dept Pharm Drug Sci, I-70125 Bari, Italy论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:La Neve, Angela论文数: 0 引用数: 0 h-index: 0机构: Univ Bari Aldo Moro, DiBraiN Dept, I-70124 Bari, Italy Univ Bari Aldo Moro, Dept Pharm Drug Sci, I-70125 Bari, ItalyImbrici, Paola论文数: 0 引用数: 0 h-index: 0机构: Univ Bari Aldo Moro, Dept Pharm Drug Sci, I-70125 Bari, Italy Univ Bari Aldo Moro, Dept Pharm Drug Sci, I-70125 Bari, Italy
- [8] Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic featuresBRAIN, 2017, 140 : 2879 - 2894Niturad, Cristina Elena论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, Tubingen, Germany Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, Tubingen, GermanyLev, Dorit论文数: 0 引用数: 0 h-index: 0机构: Wolfson Med Ctr, Inst Med Genet, Holon, Israel Wolfson Med Ctr, Metabol Neurogenet Clin, Holon, Israel Tel Aviv Univ, Sackler Sch Med, Tel Aviv, Israel Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, Tubingen, GermanyKalscheuer, Vera M.论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Mol Genet, Dept Human Mol Genet, Berlin, Germany Max Planck Inst Mol Genet, Res Grp Dev & Dis, Berlin, Germany Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, Tubingen, GermanyCharzewska, Agnieszka论文数: 0 引用数: 0 h-index: 0机构: Inst Mother & Child Hlth, Dept Med Genet, Kasprzaka 17A, PL-01211 Warsaw, Poland Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, Tubingen, GermanySchubert, Julian论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, Tubingen, Germany Univ Luxembourg, Luxembourg Ctr Syst Biomed, Luxembourg, Luxembourg Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, Tubingen, GermanyLerman-Sagie, Tally论文数: 0 引用数: 0 h-index: 0机构: Wolfson Med Ctr, Metabol Neurogenet Clin, Holon, Israel Tel Aviv Univ, Sackler Sch Med, Tel Aviv, Israel Wolfson Med Ctr, Pediat Neurol Unit, Holon, Israel Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, Tubingen, GermanyKroes, Hester Y.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, NL-3508 AB Utrecht, Netherlands Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, Tubingen, GermanyOegema, Renske论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, NL-3508 AB Utrecht, Netherlands Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, Tubingen, GermanyTraverso, Monica论文数: 0 引用数: 0 h-index: 0机构: Inst G Gaslini, Lab Neurogenet & Neurosci, Genoa, Italy Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, Tubingen, GermanySpecchio, Nicola论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Bambino Gesu Childrens Hosp, Neurol Unit, Rome, Italy Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, Tubingen, GermanyLassota, Maria论文数: 0 引用数: 0 h-index: 0机构: Genet Clin, Hetmanska 21, PL-35045 Rzeszow, Poland Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, Tubingen, GermanyChelly, Jamel论文数: 0 引用数: 0 h-index: 0机构: IGBMC, Strasbourg, France Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, Tubingen, GermanyBennett-Back, Odeya论文数: 0 引用数: 0 h-index: 0机构: Hadassah Med Ctr, Pediat Neurol Unit, Jerusalem, Israel Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, Tubingen, GermanyCarmi, Nirit论文数: 0 引用数: 0 h-index: 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Tubingen, GermanyStriano, Pasquale论文数: 0 引用数: 0 h-index: 0机构: Inst G Gaslini, Dept Neurosci Rehabil Ophtalmol Genet Maternal &, Pediat Neurol & Muscular Dis Unit, Genoa, Italy Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, Tubingen, GermanyNawara, Magdalena论文数: 0 引用数: 0 h-index: 0机构: Inst Mother & Child Hlth, Dept Med Genet, Kasprzaka 17A, PL-01211 Warsaw, Poland Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, Tubingen, GermanyRzonca, Sylwia论文数: 0 引用数: 0 h-index: 0机构: Inst Mother & Child Hlth, Dept Med Genet, Kasprzaka 17A, PL-01211 Warsaw, Poland Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, Tubingen, GermanyFischer, Ute论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Mol Genet, Dept Human Mol Genet, Berlin, Germany Max Planck Inst Mol Genet, Res Grp Dev & Dis, Berlin, Germany Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, Tubingen, GermanyBienek, Melanie论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Mol 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I.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, NL-3508 AB Utrecht, Netherlands Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, Tubingen, GermanyLerche, Holger论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, Tubingen, Germany Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, Tubingen, GermanyZara, Federico论文数: 0 引用数: 0 h-index: 0机构: Inst G Gaslini, Lab Neurogenet & Neurosci, Genoa, Italy Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, Tubingen, GermanyMaljevic, Snezana论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, Tubingen, Germany Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, Australia Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, Tubingen, GermanyLeshinsky-Silver, Esther论文数: 0 引用数: 0 h-index: 0机构: Wolfson Med Ctr, Inst Med Genet, Holon, Israel Wolfson Med Ctr, Metabol Neurogenet Clin, Holon, Israel Wolfson Med Ctr, Mol Genet Lab, Holon, Israel Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, Tubingen, Germany
- [9] De novo, heterozygous missense variants in YWHAG as a novel cause of developmental and epileptic encephalopathyEUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1471 - 1472Kanani, F.论文数: 0 引用数: 0 h-index: 0机构: Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, England Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, EnglandTitheradge, H.论文数: 0 引用数: 0 h-index: 0机构: Birmingham Womens & Childrens NHS Fdn Trust, Birmingham, W Midlands, England Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, EnglandCooper, N.论文数: 0 引用数: 0 h-index: 0机构: Birmingham Womens & Childrens NHS Fdn Trust, Birmingham, W Midlands, England Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, EnglandElmslie, F.论文数: 0 引用数: 0 h-index: 0机构: St George Hosp, South West Thames Reg Genet Serv, London, England Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, EnglandLees, M.论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, North East Reg Genet Serv, London, England Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, EnglandJuusola, J.论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Clin Genom & Res Programs, Gaithersburg, MD USA Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, EnglandPisani, L.论文数: 0 引用数: 0 h-index: 0机构: Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, EnglandMignot, C.论文数: 0 引用数: 0 h-index: 0机构: Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, EnglandValence, S.论文数: 0 引用数: 0 h-index: 0机构: Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, EnglandKeren, B.论文数: 0 引用数: 0 h-index: 0机构: Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, EnglandGuella, I.论文数: 0 引用数: 0 h-index: 0机构: Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, EnglandBalasubramanian, M.论文数: 0 引用数: 0 h-index: 0机构: Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, England Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, England
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