175 related articles for article (PubMed ID: 35152403)
1. A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype.
Vogel FD; Krenn M; Westphal DS; Graf E; Wagner M; Leiz S; Koniuszewski F; Augé-Stock M; Kramer G; Scholze P; Ernst M
Epilepsia; 2022 Apr; 63(4):e35-e41. PubMed ID: 35152403
[TBL] [Abstract][Full Text] [Related]
2. Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.
Ahring PK; Liao VWY; Gardella E; Johannesen KM; Krey I; Selmer KK; Stadheim BF; Davis H; Peinhardt C; Koko M; Coorg RK; Syrbe S; Bertsche A; Santiago-Sim T; Diemer T; Fenger CD; Platzer K; Eichler EE; Lerche H; Lemke JR; Chebib M; Møller RS
Brain; 2022 May; 145(4):1299-1309. PubMed ID: 34633442
[TBL] [Abstract][Full Text] [Related]
3. De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy.
Sajan SA; Gradisch R; Vogel FD; Coffey AJ; Salyakina D; Soler D; Jayakar P; Jayakar A; Bianconi SE; Cooper AH; Liu S; William N; Benkel-Herrenbrück I; Maiwald R; Heller C; Biskup S; Leiz S; Westphal DS; Wagner M; Clarke A; Stockner T; Ernst M; Kesari A; Krenn M
Eur J Hum Genet; 2024 Apr; ():. PubMed ID: 38565639
[TBL] [Abstract][Full Text] [Related]
4. The de novo GABRA4 p.Thr300Ile variant found in a patient with early-onset intractable epilepsy and neurodevelopmental abnormalities displays gain-of-function traits.
Ahring PK; Liao VWY; Lin S; Absalom NL; Chebib M; Møller RS
Epilepsia; 2022 Sep; 63(9):2439-2441. PubMed ID: 35781801
[No Abstract] [Full Text] [Related]
5. De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy.
Butler KM; Moody OA; Schuler E; Coryell J; Alexander JJ; Jenkins A; Escayg A
Brain; 2018 Aug; 141(8):2392-2405. PubMed ID: 29961870
[TBL] [Abstract][Full Text] [Related]
6. De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission.
Platzer K; Sticht H; Bupp C; Ganapathi M; Pereira EM; Le Guyader G; Bilan F; Henderson LB; Lemke JR; Taschenberger H; Brose N; Abou Jamra R; Wojcik SM
Ann Neurol; 2022 Dec; 92(6):958-973. PubMed ID: 36073542
[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. De novo CLPTM1 variants with reduced GABA
Liu N; Li J; Gao K; Perszyk RE; Zhang J; Wang J; Wu Y; Jenkins A; Yuan H; Traynelis SF; Jiang Y
Epilepsia; 2023 Nov; 64(11):2968-2981. PubMed ID: 37577761
[TBL] [Abstract][Full Text] [Related]
9. De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy.
von Wintzingerode L; Ben-Zeev B; Cesario C; Chan KM; Depienne C; Elpeleg O; Iascone M; Kelley WV; Nassogne MC; Niceta M; Pezzani L; Rahner N; Revencu N; Bekheirnia MR; Santiago-Sim T; Tartaglia M; Thompson ML; Trivisano M; Hentschel J; Sticht H; Abou Jamra R; Oppermann H
Genet Med; 2023 Jul; 25(7):100859. PubMed ID: 37092538
[TBL] [Abstract][Full Text] [Related]
10. Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of
Happ HC; Sadleir LG; Zemel M; de Valles-Ibáñez G; Hildebrand MS; McConkie-Rosell A; McDonald M; May H; Sands T; Aggarwal V; Elder C; Feyma T; Bayat A; Møller RS; Fenger CD; Klint Nielsen JE; Datta AN; Gorman KM; King MD; Linhares ND; Burton BK; Paras A; Ellard S; Rankin J; Shukla A; Majethia P; Olson RJ; Muthusamy K; Schimmenti LA; Starnes K; Sedláčková L; Štěrbová K; Vlčková M; Laššuthová P; Jahodová A; Porter BE; Couque N; Colin E; Prouteau C; Collet C; Smol T; Caumes R; Vansenne F; Bisulli F; Licchetta L; Person R; Torti E; McWalter K; Webster R; Gerard EE; Lesca G; Szepetowski P; Scheffer IE; Mefford HC; Carvill GL
Neurology; 2023 Feb; 100(6):e603-e615. PubMed ID: 36307226
[TBL] [Abstract][Full Text] [Related]
11. A novel variant in GABRB2 associated with intellectual disability and epilepsy.
Srivastava S; Cohen J; Pevsner J; Aradhya S; McKnight D; Butler E; Johnston M; Fatemi A
Am J Med Genet A; 2014 Nov; 164A(11):2914-21. PubMed ID: 25124326
[TBL] [Abstract][Full Text] [Related]
12. Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy.
Kanani F; Titheradge H; Cooper N; Elmslie F; Lees MM; Juusola J; Pisani L; McKenna C; Mignot C; Valence S; Keren B; Lachlan K; ; Balasubramanian M
Am J Med Genet A; 2020 Apr; 182(4):713-720. PubMed ID: 31926053
[TBL] [Abstract][Full Text] [Related]
13. Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.
Fatima A; Hoeber J; Schuster J; Koshimizu E; Maya-Gonzalez C; Keren B; Mignot C; Akram T; Ali Z; Miyatake S; Tanigawa J; Koike T; Kato M; Murakami Y; Abdullah U; Ali MA; Fadoul R; Laan L; Castillejo-López C; Liik M; Jin Z; Birnir B; Matsumoto N; Baig SM; Klar J; Dahl N
Am J Hum Genet; 2021 Apr; 108(4):739-748. PubMed ID: 33711248
[TBL] [Abstract][Full Text] [Related]
14. DYNC1H1 variants associated with infant-onset epilepsy without neurodevelopmental disorders.
Wu WC; Liang XY; Zhang DM; Jin L; Liu ZG; Zeng XL; Zhai QX; Liao WP; He N; Meng XH
Seizure; 2024 Mar; 116():119-125. PubMed ID: 37903666
[TBL] [Abstract][Full Text] [Related]
15. Rare variants in the GABA
Markus F; Angelini C; Trimouille A; Rudolf G; Lesca G; Goizet C; Lasseaux E; Arveiler B; van Slegtenhorst M; Brooks AS; Abou Jamra R; Korenke GC; Neidhardt J; Owczarek-Lipska M
Mol Genet Genomic Med; 2020 Sep; 8(9):e1388. PubMed ID: 32588540
[TBL] [Abstract][Full Text] [Related]
16. De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy.
Singh S; Gupta A; Zech M; Sigafoos AN; Clark KJ; Dincer Y; Wagner M; Humberson JB; Green S; van Gassen K; Brandt T; Schnur RE; Millan F; Si Y; Mall V; Winkelmann J; Gavrilova RH; Klee EW; Engleman K; Safina NP; Slaugh R; Bryant EM; Tan WH; Granadillo J; Misra SN; Schaefer GB; Towner S; Brilstra EH; Koeleman BPC
Genet Med; 2020 Aug; 22(8):1413-1417. PubMed ID: 32366965
[TBL] [Abstract][Full Text] [Related]
17. SCAF4 variants are associated with epilepsy with neurodevelopmental disorders.
Hu Y; Zhang B; Chen L; He J; Yang L; Chen X
Seizure; 2024 Mar; 116():113-118. PubMed ID: 37891035
[TBL] [Abstract][Full Text] [Related]
18. De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females.
Scala M; Zonneveld-Huijssoon E; Brienza M; Mecarelli O; van der Hout AH; Zambrelli E; Turner K; Zara F; Peron A; Vignoli A; Striano P
Neurogenetics; 2021 Mar; 22(1):87-94. PubMed ID: 32939676
[TBL] [Abstract][Full Text] [Related]
19. Trio exome sequencing identified a novel de novo WASF1 missense variant leading to recurrent site substitution in a Chinese patient with developmental delay, microcephaly, and early-onset seizures: A mutational hotspot p.Trp161 and literature review.
Zhao A; Zhou R; Gu Q; Liu M; Zhang B; Huang J; Yang B; Yao R; Wang J; Lv H; Wang J; Shen Y; Wang H; Chen X
Clin Chim Acta; 2021 Dec; 523():10-18. PubMed ID: 34478686
[TBL] [Abstract][Full Text] [Related]
20. De novo GABRG2 mutations associated with epileptic encephalopathies.
Shen D; Hernandez CC; Shen W; Hu N; Poduri A; Shiedley B; Rotenberg A; Datta AN; Leiz S; Patzer S; Boor R; Ramsey K; Goldberg E; Helbig I; Ortiz-Gonzalez XR; Lemke JR; Marsh ED; Macdonald RL
Brain; 2017 Jan; 140(1):49-67. PubMed ID: 27864268
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
