129 related articles for article (PubMed ID: 35386260)
1. A
Ye Y; Hu Z; Mai J; Chen L; Cao D; Liao J; Duan J
Front Pediatr; 2022; 10():759889. PubMed ID: 35386260
[TBL] [Abstract][Full Text] [Related]
2. PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1.
Bonnemason-Carrere P; Morice-Picard F; Pennamen P; Arveiler B; Fergelot P; Goizet C; Hellegouarch M; Lacombe D; Plaisant C; Raclet V; Rooryck C; Lasseaux E; Trimouille A
Am J Med Genet A; 2019 Jun; 179(6):1030-1033. PubMed ID: 30903679
[TBL] [Abstract][Full Text] [Related]
3. PUMILIO1 Links Epilepsy to Spinocerebellar Ataxia.
Lyman KA; Chetkovich DM
Epilepsy Curr; 2019; 19(2):122-123. PubMed ID: 30955425
[TBL] [Abstract][Full Text] [Related]
4. A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.
Gennarino VA; Palmer EE; McDonell LM; Wang L; Adamski CJ; Koire A; See L; Chen CA; Schaaf CP; Rosenfeld JA; Panzer JA; Moog U; Hao S; Bye A; Kirk EP; Stankiewicz P; Breman AM; McBride A; Kandula T; Dubbs HA; Macintosh R; Cardamone M; Zhu Y; Ying K; Dias KR; Cho MT; Henderson LB; Baskin B; Morris P; Tao J; Cowley MJ; Dinger ME; Roscioli T; Caluseriu O; Suchowersky O; Sachdev RK; Lichtarge O; Tang J; Boycott KM; Holder JL; Zoghbi HY
Cell; 2018 Feb; 172(5):924-936.e11. PubMed ID: 29474920
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Beyond Dravet Syndrome: Characterization of a Novel, More Severe SCN1A-Linked Epileptic Encephalopathy.
Beck VC; Hull JM; Isom LL
Epilepsy Curr; 2019; 19(4):266-268. PubMed ID: 31257984
[TBL] [Abstract][Full Text] [Related]
7. Investigating PUM1 mutations in a Taiwanese cohort with cerebellar ataxia.
Lai KL; Liao YC; Tsai PC; Hsiao CT; Soong BW; Lee YC
Parkinsonism Relat Disord; 2019 Sep; 66():220-223. PubMed ID: 31422002
[TBL] [Abstract][Full Text] [Related]
8. A novel GABRB3 variant in Dravet syndrome: Case report and literature review.
Pavone P; Pappalardo XG; Marino SD; Sciuto L; Corsello G; Ruggieri M; Parano E; Piccione M; Falsaperla R
Mol Genet Genomic Med; 2020 Nov; 8(11):e1461. PubMed ID: 32945607
[TBL] [Abstract][Full Text] [Related]
9. Gene mutational analysis in a cohort of Chinese children with unexplained epilepsy: Identification of a new KCND3 phenotype and novel genes causing Dravet syndrome.
Wang J; Wen Y; Zhang Q; Yu S; Chen Y; Wu X; Zhang Y; Bao X
Seizure; 2019 Mar; 66():26-30. PubMed ID: 30776697
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Sodium Channel Gene Mutations in Children with GEFS+ and Dravet Syndrome: A Cross Sectional Study.
TONEKABONI SH; EBRAHIMI A; BAKHSHANDEH BALI MK; TAHERI OTAGHSARA SM; HOUSHMAND M; NASEHI MM; TAGHDIRI MM; MOGHADDASI M
Iran J Child Neurol; 2013; 7(2):31-6. PubMed ID: 24665294
[TBL] [Abstract][Full Text] [Related]
12. [Phenotype study of SCN2A gene related epilepsy].
Zeng Q; Zhang YH; Yang XL; Zhang J; Liu AJ; Liu XY; Jiang YW; Wu XR
Zhonghua Er Ke Za Zhi; 2018 Jul; 56(7):518-523. PubMed ID: 29996185
[No Abstract] [Full Text] [Related]
13. Novel
Gontika MP; Konialis C; Pangalos C; Papavasiliou A
Child Neurol Open; 2017; 4():2329048X17706794. PubMed ID: 28540321
[TBL] [Abstract][Full Text] [Related]
14. Case Report: Phenotype-Driven Diagnosis of Atypical Dravet-Like Syndrome Caused by a Novel Splicing Variant in the
Sharkov A; Sparber P; Stepanova A; Pyankov D; Korostelev S; Skoblov M
Front Genet; 2022; 13():888481. PubMed ID: 35711923
[TBL] [Abstract][Full Text] [Related]
15. Long-term Efficacy of Perampanel in a Child with Dravet Syndrome.
Turón-Viñas E; Díaz-Gómez A; Coca E; Dougherty L; Ruiz C; Boronat S
Child Neurol Open; 2021; 8():2329048X211050711. PubMed ID: 34692895
[TBL] [Abstract][Full Text] [Related]
16. The molecular and phenotypic spectrum of IQSEC2-related epilepsy.
Zerem A; Haginoya K; Lev D; Blumkin L; Kivity S; Linder I; Shoubridge C; Palmer EE; Field M; Boyle J; Chitayat D; Gaillard WD; Kossoff EH; Willems M; Geneviève D; Tran-Mau-Them F; Epstein O; Heyman E; Dugan S; Masurel-Paulet A; Piton A; Kleefstra T; Pfundt R; Sato R; Tzschach A; Matsumoto N; Saitsu H; Leshinsky-Silver E; Lerman-Sagie T
Epilepsia; 2016 Nov; 57(11):1858-1869. PubMed ID: 27665735
[TBL] [Abstract][Full Text] [Related]
17. Novel Variant Expands the Clinical Spectrum of CUX2-Associated Developmental and Epileptic Encephalopathies.
Zhang F; Li F; Chen F; Huang J; Luo Q; Du X; Zhou J; Gu W; Xu K
Front Genet; 2022; 13():808181. PubMed ID: 35846140
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy.
Estacion M; O'Brien JE; Conravey A; Hammer MF; Waxman SG; Dib-Hajj SD; Meisler MH
Neurobiol Dis; 2014 Sep; 69():117-23. PubMed ID: 24874546
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
