148 related articles for article (PubMed ID: 38129960)
1. Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report.
Nyaga DM; Hildebrand MS; de Valles-Ibáñez G; Keenan NF; Ye Z; LaFlamme CW; Mefford HC; Bennett MF; Bahlo M; Sadleir LG
Epilepsia Open; 2024 Apr; 9(2):758-764. PubMed ID: 38129960
[TBL] [Abstract][Full Text] [Related]
2. Functional investigation of SCN1A deep-intronic variants activating poison exons inclusion.
Sparber P; Bychkov I; Pyankov D; Skoblov M
Hum Genet; 2023 Aug; 142(8):1043-1053. PubMed ID: 37186029
[TBL] [Abstract][Full Text] [Related]
3. Differences in SCN1A intronic variants result in diverse aberrant splicing patterns and are related to the phenotypes of epilepsy with febrile seizures.
Zhou X; Xu H; Cai X; Tang B; Liu X; Shi Y; Zheng J; Liao W; Yu L
Epilepsy Res; 2021 Oct; 176():106711. PubMed ID: 34293681
[TBL] [Abstract][Full Text] [Related]
4. Dravet syndrome and hemorrhagic shock and encephalopathy syndrome associated with an intronic deletion of SCN1A.
Hanafusa H; Yamaguchi H; Kondo H; Nagasaka M; Juan Ye M; Oikawa S; Tokumoto S; Tomioka K; Nishiyama M; Morisada N; Matsuo M; Nozu K; Nagase H
Brain Dev; 2023 Jun; 45(6):317-323. PubMed ID: 36774261
[TBL] [Abstract][Full Text] [Related]
5. Rates of Status Epilepticus and Sudden Unexplained Death in Epilepsy in People With Genetic Developmental and Epileptic Encephalopathies.
Donnan AM; Schneider AL; Russ-Hall S; Churilov L; Scheffer IE
Neurology; 2023 Apr; 100(16):e1712-e1722. PubMed ID: 36750385
[TBL] [Abstract][Full Text] [Related]
6. Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies.
Carvill GL; Engel KL; Ramamurthy A; Cochran JN; Roovers J; Stamberger H; Lim N; Schneider AL; Hollingsworth G; Holder DH; Regan BM; Lawlor J; Lagae L; Ceulemans B; Bebin EM; Nguyen J; ; Barsh GS; Weckhuysen S; Meisler M; Berkovic SF; De Jonghe P; Scheffer IE; Myers RM; Cooper GM; Mefford HC
Am J Hum Genet; 2018 Dec; 103(6):1022-1029. PubMed ID: 30526861
[TBL] [Abstract][Full Text] [Related]
7. Pathogenic significance of SCN1A splicing variants causing Dravet syndrome: Improving diagnosis with targeted sequencing for variants by in silico analysis.
Mahdieh N; Mikaeeli S; Badv RS; Shirazi AG; Maleki M; Rabbani B
Clin Neurol Neurosurg; 2018 Mar; 166():80-90. PubMed ID: 29408779
[TBL] [Abstract][Full Text] [Related]
8. Two autopsy cases of sudden unexpected death from Dravet syndrome with novel de novo SCN1A variants.
Hata Y; Oku Y; Taneichi H; Tanaka T; Igarashi N; Niida Y; Nishida N
Brain Dev; 2020 Feb; 42(2):171-178. PubMed ID: 31677916
[TBL] [Abstract][Full Text] [Related]
9. Genetic Diagnosis of Dravet Syndrome Using Next Generation Sequencing-Based Epilepsy Gene Panel Testing.
Lee J; Lee C; Park WY; Lee J
Ann Clin Lab Sci; 2020 Sep; 50(5):625-637. PubMed ID: 33067208
[TBL] [Abstract][Full Text] [Related]
10. Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies.
Zhou P; He N; Zhang JW; Lin ZJ; Wang J; Yan LM; Meng H; Tang B; Li BM; Liu XR; Shi YW; Zhai QX; Yi YH; Liao WP
Genes Brain Behav; 2018 Nov; 17(8):e12456. PubMed ID: 29314583
[TBL] [Abstract][Full Text] [Related]
11. Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization.
Di Scipio M; Tavares E; Deshmukh S; Audo I; Green-Sanderson K; Zubak Y; Zine-Eddine F; Pearson A; Vig A; Tang CY; Mollica A; Karas J; Tumber A; Yu CW; Billingsley G; Wilson MD; Zeitz C; Héon E; Vincent A
Invest Ophthalmol Vis Sci; 2020 Aug; 61(10):36. PubMed ID: 32881472
[TBL] [Abstract][Full Text] [Related]
12. A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly.
Classen S; Goecke T; Drechsler M; Betz B; Nickel N; Beier M; Schaper J; Karenfort M; Royer-Pokora B
Am J Med Genet A; 2013 Jun; 161A(6):1453-8. PubMed ID: 23633430
[TBL] [Abstract][Full Text] [Related]
13. Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia.
Luo X; Wang R; Sun Y; Qiu W; Lu D; Wang Y; Gong Z; Zhang H; Han L; Liang L; Gu X; Yu Y; Xiao B
J Mol Diagn; 2023 May; 25(5):284-294. PubMed ID: 36849017
[TBL] [Abstract][Full Text] [Related]
14. Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes.
de Lange IM; Koudijs MJ; van 't Slot R; Gunning B; Sonsma ACM; van Gemert LJJM; Mulder F; Carbo EC; van Kempen MJA; Verbeek NE; Nijman IJ; Ernst RF; Savelberg SMC; Knoers NVAM; Brilstra EH; Koeleman BPC
Epilepsia; 2018 Mar; 59(3):690-703. PubMed ID: 29460957
[TBL] [Abstract][Full Text] [Related]
15. SCN1A-related phenotypes: Epilepsy and beyond.
Scheffer IE; Nabbout R
Epilepsia; 2019 Dec; 60 Suppl 3():S17-S24. PubMed ID: 31904117
[TBL] [Abstract][Full Text] [Related]
16. Genotype-phenotype correlates of infantile-onset developmental & epileptic encephalopathy syndromes in South India: A single centre experience.
Mitta N; Menon RN; McTague A; Radhakrishnan A; Sundaram S; Cherian A; Madhavilatha GK; Mannan AU; Nampoothiri S; Thomas SV
Epilepsy Res; 2020 Oct; 166():106398. PubMed ID: 32593896
[TBL] [Abstract][Full Text] [Related]
17. PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing.
Kurosawa R; Iida K; Ajiro M; Awaya T; Yamada M; Kosaki K; Hagiwara M
BMC Genomics; 2023 Oct; 24(1):601. PubMed ID: 37817060
[TBL] [Abstract][Full Text] [Related]
18. A 2020 View on the Genetics of Developmental and Epileptic Encephalopathies.
Happ HC; Carvill GL
Epilepsy Curr; 2020 Mar; 20(2):90-96. PubMed ID: 32166973
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus.
Lee J; Jeong H; Won D; Shin S; Lee ST; Choi JR; Byeon SH; Kuht HJ; Thomas MG; Han J
Transl Vis Sci Technol; 2022 Jun; 11(6):25. PubMed ID: 35762937
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]