140 related articles for article (PubMed ID: 32045939)
1. Novel Mutation in ATP6V1A Gene with Infantile Spasms in an Indian Boy.
Kadwa RA
Neuropediatrics; 2020 Aug; 51(4):292-294. PubMed ID: 32045939
[TBL] [Abstract][Full Text] [Related]
2. Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Guerrini R; Mei D; Kerti-Szigeti K; Pepe S; Koenig MK; Von Allmen G; Cho MT; McDonald K; Baker J; Bhambhani V; Powis Z; Rodan L; Nabbout R; Barcia G; Rosenfeld JA; Bacino CA; Mignot C; Power LH; Harris CJ; Marjanovic D; Møller RS; Hammer TB; ; Keski Filppula R; Vieira P; Hildebrandt C; Sacharow S; ; Maragliano L; Benfenati F; Lachlan K; Benneche A; Petit F; de Sainte Agathe JM; Hallinan B; Si Y; Wentzensen IM; Zou F; Narayanan V; Matsumoto N; Boncristiano A; la Marca G; Kato M; Anderson K; Barba C; Sturiale L; Garozzo D; Bei R; ; Masuelli L; Conti V; Novarino G; Fassio A
Brain; 2022 Aug; 145(8):2687-2703. PubMed ID: 35675510
[TBL] [Abstract][Full Text] [Related]
3. STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.
Mignot C; Moutard ML; Trouillard O; Gourfinkel-An I; Jacquette A; Arveiler B; Morice-Picard F; Lacombe D; Chiron C; Ville D; Charles P; LeGuern E; Depienne C; Héron D
Epilepsia; 2011 Oct; 52(10):1820-7. PubMed ID: 21762454
[TBL] [Abstract][Full Text] [Related]
4. A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern.
Romaniello R; Zucca C; Tenderini E; Arrigoni F; Ragona F; Zorzi G; Bassi MT; Borgatti R
J Child Neurol; 2014 Feb; 29(2):249-53. PubMed ID: 24170257
[TBL] [Abstract][Full Text] [Related]
5. A heterozygous pathogenic variant in the ATP6V1A gene triggering epilepsy in a large Chinese pedigree.
Xiaoquan C; Yuting L; Pu M; Haiying C; Zheng W; Ye W; Fan Y; Mengmeng L; Jianhua F
Clin Neurol Neurosurg; 2023 Oct; 233():107956. PubMed ID: 37729800
[TBL] [Abstract][Full Text] [Related]
6. Epileptic encephalopathies in infants and children.
Nordli DR
J Clin Neurophysiol; 2012 Oct; 29(5):420-4. PubMed ID: 23027099
[TBL] [Abstract][Full Text] [Related]
7. Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?
Barcia G; Chemaly N; Gobin S; Milh M; Van Bogaert P; Barnerias C; Kaminska A; Dulac O; Desguerre I; Cormier V; Boddaert N; Nabbout R
Eur J Med Genet; 2014 Jan; 57(1):15-20. PubMed ID: 24189369
[TBL] [Abstract][Full Text] [Related]
8. X-Linked ALG13 Gene Variant as a Cause of Epileptic Encephalopathy in Girls.
Madaan P; Negi S; Sharma R; Kaur A; Sahu JK
Indian J Pediatr; 2019 Nov; 86(11):1072-1073. PubMed ID: 31444733
[No Abstract] [Full Text] [Related]
9. STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.
Saitsu H; Kato M; Okada I; Orii KE; Higuchi T; Hoshino H; Kubota M; Arai H; Tagawa T; Kimura S; Sudo A; Miyama S; Takami Y; Watanabe T; Nishimura A; Nishiyama K; Miyake N; Wada T; Osaka H; Kondo N; Hayasaka K; Matsumoto N
Epilepsia; 2010 Dec; 51(12):2397-405. PubMed ID: 20887364
[TBL] [Abstract][Full Text] [Related]
10. De novo GABRA1 mutations in Ohtahara and West syndromes.
Kodera H; Ohba C; Kato M; Maeda T; Araki K; Tajima D; Matsuo M; Hino-Fukuyo N; Kohashi K; Ishiyama A; Takeshita S; Motoi H; Kitamura T; Kikuchi A; Tsurusaki Y; Nakashima M; Miyake N; Sasaki M; Kure S; Haginoya K; Saitsu H; Matsumoto N
Epilepsia; 2016 Apr; 57(4):566-73. PubMed ID: 26918889
[TBL] [Abstract][Full Text] [Related]
11. Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy.
Gürsoy S; Erçal D
J Child Neurol; 2016 Mar; 31(4):523-32. PubMed ID: 26271793
[TBL] [Abstract][Full Text] [Related]
12. Splice variant in ARX leading to loss of C-terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy.
Shoubridge C; Jackson M; Grinton B; Berkovic SF; Scheffer IE; Huskins S; Thomas A; Ware T
Am J Med Genet A; 2019 Aug; 179(8):1483-1490. PubMed ID: 31145546
[TBL] [Abstract][Full Text] [Related]
13. Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results.
Gerald B; Ramsey K; Belnap N; Szelinger S; Siniard AL; Balak C; Russell M; Richholt R; De Both M; Claasen AM; Schrauwen I; Huentelman MJ; Craig DW; Rangasamy S; Narayanan V
Semin Pediatr Neurol; 2018 Jul; 26():28-32. PubMed ID: 29961512
[TBL] [Abstract][Full Text] [Related]
14. Turkish cases of early infantile epileptic encephalopathy: two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene.
Gökben S; Serdaroğlu G; Yılmaz S; Bienvenu T; Ceylaner S
Turk J Pediatr; 2015; 57(3):272-6. PubMed ID: 26701947
[TBL] [Abstract][Full Text] [Related]
15. Novel Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotypes.
Mastrangelo M
Pediatr Neurol; 2015 Aug; 53(2):119-29. PubMed ID: 26073591
[TBL] [Abstract][Full Text] [Related]
16. A Novel
Liu WT; Chen Q; Gao ZJ; Ji XN; Xu KM; Cao YY
Chin Med J (Engl); 2018 Dec; 131(24):2991-2992. PubMed ID: 30539914
[No Abstract] [Full Text] [Related]
17. Biallelic mutations in
Krenn M; Knaus A; Westphal DS; Wortmann SB; Polster T; Woermann FG; Karenfort M; Mayatepek E; Meitinger T; Wagner M; Distelmaier F
Ann Clin Transl Neurol; 2019 May; 6(5):968-973. PubMed ID: 31139695
[TBL] [Abstract][Full Text] [Related]
18. ATP6V1A variants are associated with childhood epilepsy with favorable outcome.
Li B; Lan S; Liu XR; Ji JJ; He YY; Zhang DM; Xu J; Sun H; Shi Z; Wang J; Tian Y;
Seizure; 2024 Mar; 116():81-86. PubMed ID: 37574426
[TBL] [Abstract][Full Text] [Related]
19. [Clinical usefulness of serial EEG examinations in the diagnostic of hereditary epileptic encephalopathies case of severe epileptic encephalopathy type 2].
Terczyńska I; Mierzewska H; Szczepanik E; Antczak-Marach D
Przegl Lek; 2010; 67(9):757-61. PubMed ID: 21387820
[TBL] [Abstract][Full Text] [Related]
20. Practical clues for diagnosing WWOX encephalopathy.
Tarta-Arsene O; Barca D; Craiu D; Iliescu C
Epileptic Disord; 2017 Sep; 19(3):357-361. PubMed ID: 28721938
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
