438 related articles for article (PubMed ID: 30033060)
1. Rare coding variants in genes encoding GABA
May P; Girard S; Harrer M; Bobbili DR; Schubert J; Wolking S; Becker F; Lachance-Touchette P; Meloche C; Gravel M; Niturad CE; Knaus J; De Kovel C; Toliat M; Polvi A; Iacomino M; Guerrero-López R; Baulac S; Marini C; Thiele H; Altmüller J; Jabbari K; Ruppert AK; Jurkowski W; Lal D; Rusconi R; Cestèle S; Terragni B; Coombs ID; Reid CA; Striano P; Caglayan H; Siren A; Everett K; Møller RS; Hjalgrim H; Muhle H; Helbig I; Kunz WS; Weber YG; Weckhuysen S; Jonghe P; Sisodiya SM; Nabbout R; Franceschetti S; Coppola A; Vari MS; Kasteleijn-Nolst Trenité D; Baykan B; Ozbek U; Bebek N; Klein KM; Rosenow F; Nguyen DK; Dubeau F; Carmant L; Lortie A; Desbiens R; Clément JF; Cieuta-Walti C; Sills GJ; Auce P; Francis B; Johnson MR; Marson AG; Berghuis B; Sander JW; Avbersek A; McCormack M; Cavalleri GL; Delanty N; Depondt C; Krenn M; Zimprich F; Peter S; Nikanorova M; Kraaij R; van Rooij J; Balling R; Ikram MA; Uitterlinden AG; Avanzini G; Schorge S; Petrou S; Mantegazza M; Sander T; LeGuern E; Serratosa JM; Koeleman BPC; Palotie A; Lehesjoki AE; Nothnagel M; Nürnberg P; Maljevic S; Zara F; Cossette P; Krause R; Lerche H; ; ;
Lancet Neurol; 2018 Aug; 17(8):699-708. PubMed ID: 30033060
[TBL] [Abstract][Full Text] [Related]
2. Association of ultra-rare coding variants with genetic generalized epilepsy: A case-control whole exome sequencing study.
Koko M; Motelow JE; Stanley KE; Bobbili DR; Dhindsa RS; May P; ; ; ; ;
Epilepsia; 2022 Mar; 63(3):723-735. PubMed ID: 35032048
[TBL] [Abstract][Full Text] [Related]
3. Ultra-rare genetic variation in common epilepsies: a case-control sequencing study.
;
Lancet Neurol; 2017 Feb; 16(2):135-143. PubMed ID: 28102150
[TBL] [Abstract][Full Text] [Related]
4. Distinct gene-set burden patterns underlie common generalized and focal epilepsies.
Koko M; Krause R; Sander T; Bobbili DR; Nothnagel M; May P; Lerche H;
EBioMedicine; 2021 Oct; 72():103588. PubMed ID: 34571366
[TBL] [Abstract][Full Text] [Related]
5. Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals.
;
Am J Hum Genet; 2019 Aug; 105(2):267-282. PubMed ID: 31327507
[TBL] [Abstract][Full Text] [Related]
6. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.
;
Am J Hum Genet; 2021 Jun; 108(6):965-982. PubMed ID: 33932343
[TBL] [Abstract][Full Text] [Related]
7. Characterization of the GABRB2-Associated Neurodevelopmental Disorders.
El Achkar CM; Harrer M; Smith L; Kelly M; Iqbal S; Maljevic S; Niturad CE; Vissers LELM; Poduri A; Yang E; Lal D; Lerche H; Møller RS; Olson HE;
Ann Neurol; 2021 Mar; 89(3):573-586. PubMed ID: 33325057
[TBL] [Abstract][Full Text] [Related]
8. Expanding role of GABA
Mefford HC
Lancet Neurol; 2018 Aug; 17(8):657-658. PubMed ID: 30033051
[No Abstract] [Full Text] [Related]
9. Neurological disorder-associated genetic variants in individuals with psychogenic nonepileptic seizures.
Leu C; Bautista JF; Sudarsanam M; Niestroj LM; Stefanski A; Ferguson L; Daly MJ; Jehi L; Najm IM; Busch RM; Lal D
Sci Rep; 2020 Sep; 10(1):15205. PubMed ID: 32938993
[TBL] [Abstract][Full Text] [Related]
10. Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
Niturad CE; Lev D; Kalscheuer VM; Charzewska A; Schubert J; Lerman-Sagie T; Kroes HY; Oegema R; Traverso M; Specchio N; Lassota M; Chelly J; Bennett-Back O; Carmi N; Koffler-Brill T; Iacomino M; Trivisano M; Capovilla G; Striano P; Nawara M; Rzonca S; Fischer U; Bienek M; Jensen C; Hu H; Thiele H; Altmüller J; Krause R; May P; Becker F; ; Balling R; Biskup S; Haas SA; Nürnberg P; van Gassen KLI; Lerche H; Zara F; Maljevic S; Leshinsky-Silver E
Brain; 2017 Nov; 140(11):2879-2894. PubMed ID: 29053855
[TBL] [Abstract][Full Text] [Related]
11. Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.
Waszak SM; Northcott PA; Buchhalter I; Robinson GW; Sutter C; Groebner S; Grund KB; Brugières L; Jones DTW; Pajtler KW; Morrissy AS; Kool M; Sturm D; Chavez L; Ernst A; Brabetz S; Hain M; Zichner T; Segura-Wang M; Weischenfeldt J; Rausch T; Mardin BR; Zhou X; Baciu C; Lawerenz C; Chan JA; Varlet P; Guerrini-Rousseau L; Fults DW; Grajkowska W; Hauser P; Jabado N; Ra YS; Zitterbart K; Shringarpure SS; De La Vega FM; Bustamante CD; Ng HK; Perry A; MacDonald TJ; Hernáiz Driever P; Bendel AE; Bowers DC; McCowage G; Chintagumpala MM; Cohn R; Hassall T; Fleischhack G; Eggen T; Wesenberg F; Feychting M; Lannering B; Schüz J; Johansen C; Andersen TV; Röösli M; Kuehni CE; Grotzer M; Kjaerheim K; Monoranu CM; Archer TC; Duke E; Pomeroy SL; Shelagh R; Frank S; Sumerauer D; Scheurlen W; Ryzhova MV; Milde T; Kratz CP; Samuel D; Zhang J; Solomon DA; Marra M; Eils R; Bartram CR; von Hoff K; Rutkowski S; Ramaswamy V; Gilbertson RJ; Korshunov A; Taylor MD; Lichter P; Malkin D; Gajjar A; Korbel JO; Pfister SM
Lancet Oncol; 2018 Jun; 19(6):785-798. PubMed ID: 29753700
[TBL] [Abstract][Full Text] [Related]
12. Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery.
Oliver KL; Ellis CA; Scheffer IE; Ganesan S; Leu C; Sadleir LG; Heinzen EL; Mefford HC; Bass AJ; Curtis SW; Harris RV; ; Whiteman DC; Helbig I; Ottman R; Epstein MP; Bahlo M; Berkovic SF
EBioMedicine; 2022 Jul; 81():104079. PubMed ID: 35636315
[TBL] [Abstract][Full Text] [Related]
13. Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort.
Rochtus A; Olson HE; Smith L; Keith LG; El Achkar C; Taylor A; Mahida S; Park M; Kelly M; Shain C; Rockowitz S; Rosen Sheidley B; Poduri A
Epilepsia; 2020 Feb; 61(2):249-258. PubMed ID: 31957018
[TBL] [Abstract][Full Text] [Related]
14. A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.
Johnston AJ; Kang JQ; Shen W; Pickrell WO; Cushion TD; Davies JS; Baer K; Mullins JGL; Hammond CL; Chung SK; Thomas RH; White C; Smith PEM; Macdonald RL; Rees MI
Neurobiol Dis; 2014 Apr; 64():131-141. PubMed ID: 24407264
[TBL] [Abstract][Full Text] [Related]
15. Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population.
Hernandez CC; Klassen TL; Jackson LG; Gurba K; Hu N; Noebels JL; Macdonald RL
PLoS One; 2016; 11(9):e0162883. PubMed ID: 27622563
[TBL] [Abstract][Full Text] [Related]
16. Whole-Exome Sequencing in Familial Parkinson Disease.
Farlow JL; Robak LA; Hetrick K; Bowling K; Boerwinkle E; Coban-Akdemir ZH; Gambin T; Gibbs RA; Gu S; Jain P; Jankovic J; Jhangiani S; Kaw K; Lai D; Lin H; Ling H; Liu Y; Lupski JR; Muzny D; Porter P; Pugh E; White J; Doheny K; Myers RM; Shulman JM; Foroud T
JAMA Neurol; 2016 Jan; 73(1):68-75. PubMed ID: 26595808
[TBL] [Abstract][Full Text] [Related]
17. Monogenic and polygenic determinants of sarcoma risk: an international genetic study.
Ballinger ML; Goode DL; Ray-Coquard I; James PA; Mitchell G; Niedermayr E; Puri A; Schiffman JD; Dite GS; Cipponi A; Maki RG; Brohl AS; Myklebost O; Stratford EW; Lorenz S; Ahn SM; Ahn JH; Kim JE; Shanley S; Beshay V; Randall RL; Judson I; Seddon B; Campbell IG; Young MA; Sarin R; Blay JY; O'Donoghue SI; Thomas DM;
Lancet Oncol; 2016 Sep; 17(9):1261-71. PubMed ID: 27498913
[TBL] [Abstract][Full Text] [Related]
18. ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder.
Oates S; Absoud M; Goyal S; Bayley S; Baulcomb J; Sims A; Riddett A; Allis K; Brasch-Andersen C; Balasubramanian M; Bai R; Callewaert B; Hüffmeier U; Le Duc D; Radtke M; Korff C; Kennedy J; Low K; Møller RS; Nielsen JEK; Popp B; Quteineh L; Rønde G; Schönewolf-Greulich B; Shillington A; Taylor MR; Todd E; Torring PM; Tümer Z; Vasileiou G; Yates TM; Zweier C; Rosch R; Basson MA; Pal DK
Clin Genet; 2021 Oct; 100(4):412-429. PubMed ID: 34216016
[TBL] [Abstract][Full Text] [Related]
19. Monogenic variants in dystonia: an exome-wide sequencing study.
Zech M; Jech R; Boesch S; Škorvánek M; Weber S; Wagner M; Zhao C; Jochim A; Necpál J; Dincer Y; Vill K; Distelmaier F; Stoklosa M; Krenn M; Grunwald S; Bock-Bierbaum T; Fečíková A; Havránková P; Roth J; Příhodová I; Adamovičová M; Ulmanová O; Bechyně K; Danhofer P; Veselý B; Haň V; Pavelekova P; Gdovinová Z; Mantel T; Meindl T; Sitzberger A; Schröder S; Blaschek A; Roser T; Bonfert MV; Haberlandt E; Plecko B; Leineweber B; Berweck S; Herberhold T; Langguth B; Švantnerová J; Minár M; Ramos-Rivera GA; Wojcik MH; Pajusalu S; Õunap K; Schatz UA; Pölsler L; Milenkovic I; Laccone F; Pilshofer V; Colombo R; Patzer S; Iuso A; Vera J; Troncoso M; Fang F; Prokisch H; Wilbert F; Eckenweiler M; Graf E; Westphal DS; Riedhammer KM; Brunet T; Alhaddad B; Berutti R; Strom TM; Hecht M; Baumann M; Wolf M; Telegrafi A; Person RE; Zamora FM; Henderson LB; Weise D; Musacchio T; Volkmann J; Szuto A; Becker J; Cremer K; Sycha T; Zimprich F; Kraus V; Makowski C; Gonzalez-Alegre P; Bardakjian TM; Ozelius LJ; Vetro A; Guerrini R; Maier E; Borggraefe I; Kuster A; Wortmann SB; Hackenberg A; Steinfeld R; Assmann B; Staufner C; Opladen T; Růžička E; Cohn RD; Dyment D; Chung WK; Engels H; Ceballos-Baumann A; Ploski R; Daumke O; Haslinger B; Mall V; Oexle K; Winkelmann J
Lancet Neurol; 2020 Nov; 19(11):908-918. PubMed ID: 33098801
[TBL] [Abstract][Full Text] [Related]
20. Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy.
Heinzen EL; Depondt C; Cavalleri GL; Ruzzo EK; Walley NM; Need AC; Ge D; He M; Cirulli ET; Zhao Q; Cronin KD; Gumbs CE; Campbell CR; Hong LK; Maia JM; Shianna KV; McCormack M; Radtke RA; O'Conner GD; Mikati MA; Gallentine WB; Husain AM; Sinha SR; Chinthapalli K; Puranam RS; McNamara JO; Ottman R; Sisodiya SM; Delanty N; Goldstein DB
Am J Hum Genet; 2012 Aug; 91(2):293-302. PubMed ID: 22863189
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
