218 related articles for article (PubMed ID: 29986434)
1. A Child with a c.6923_6928dup (p.Arg2308_Met2309dup)
Rapaccini V; Esposito S; Strinati F; Allegretti M; Manfroi E; Miconi F; Pitzianti M; Prontera P; Principi N; Pasini A
Int J Mol Sci; 2018 Jul; 19(7):. PubMed ID: 29986434
[TBL] [Abstract][Full Text] [Related]
2. Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Syrbe S; Harms FL; Parrini E; Montomoli M; Mütze U; Helbig KL; Polster T; Albrecht B; Bernbeck U; van Binsbergen E; Biskup S; Burglen L; Denecke J; Heron B; Heyne HO; Hoffmann GF; Hornemann F; Matsushige T; Matsuura R; Kato M; Korenke GC; Kuechler A; Lämmer C; Merkenschlager A; Mignot C; Ruf S; Nakashima M; Saitsu H; Stamberger H; Pisano T; Tohyama J; Weckhuysen S; Werckx W; Wickert J; Mari F; Verbeek NE; Møller RS; Koeleman B; Matsumoto N; Dobyns WB; Battaglia D; Lemke JR; Kutsche K; Guerrini R
Brain; 2017 Sep; 140(9):2322-2336. PubMed ID: 29050398
[TBL] [Abstract][Full Text] [Related]
3. SPTAN1 encephalopathy: distinct phenotypes and genotypes.
Tohyama J; Nakashima M; Nabatame S; Gaik-Siew C; Miyata R; Rener-Primec Z; Kato M; Matsumoto N; Saitsu H
J Hum Genet; 2015 Apr; 60(4):167-73. PubMed ID: 25631096
[TBL] [Abstract][Full Text] [Related]
4. Early-onset epileptic encephalopathy with myoclonic seizures related to 9q33.3-q34.11 deletion involving STXBP1 and SPTAN1 genes.
Aravindhan A; Shah K; Pak J; Veerapandiyan A
Epileptic Disord; 2018 Jun; 20(3):214-218. PubMed ID: 29897043
[TBL] [Abstract][Full Text] [Related]
5. Early onset West syndrome with severe hypomyelination and coloboma-like optic discs in a girl with SPTAN1 mutation.
Writzl K; Primec ZR; Stražišar BG; Osredkar D; Pečarič-Meglič N; Kranjc BS; Nishiyama K; Matsumoto N; Saitsu H
Epilepsia; 2012 Jun; 53(6):e106-10. PubMed ID: 22429196
[TBL] [Abstract][Full Text] [Related]
6. Early myoclonic encephalopathy in 9q33-q34 deletion encompassing STXBP1 and SPTAN1.
Nicita F; Ulgiati F; Bernardini L; Garone G; Papetti L; Novelli A; Spalice A
Ann Hum Genet; 2015 May; 79(3):209-17. PubMed ID: 25779878
[TBL] [Abstract][Full Text] [Related]
7. The landscape of early infantile epileptic encephalopathy in a consanguineous population.
Nashabat M; Al Qahtani XS; Almakdob S; Altwaijri W; Ba-Armah DM; Hundallah K; Al Hashem A; Al Tala S; Maddirevula S; Alkuraya FS; Tabarki B; Alfadhel M
Seizure; 2019 Jul; 69():154-172. PubMed ID: 31054490
[TBL] [Abstract][Full Text] [Related]
8. Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.
Campbell IM; Yatsenko SA; Hixson P; Reimschisel T; Thomas M; Wilson W; Dayal U; Wheless JW; Crunk A; Curry C; Parkinson N; Fishman L; Riviello JJ; Nowaczyk MJ; Zeesman S; Rosenfeld JA; Bejjani BA; Shaffer LG; Cheung SW; Lupski JR; Stankiewicz P; Scaglia F
Genet Med; 2012 Oct; 14(10):868-76. PubMed ID: 22722545
[TBL] [Abstract][Full Text] [Related]
9. Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype.
Gartner V; Markello TC; Macnamara E; De Biase A; Thurm A; Joseph L; Beggs A; Schmahmann JD; Berry GT; Anselm I; Boslet E; Tifft CJ; Gahl WA; Lee PR
Am J Med Genet A; 2018 Dec; 176(12):2768-2776. PubMed ID: 30548380
[TBL] [Abstract][Full Text] [Related]
10. Critical roles of αII spectrin in brain development and epileptic encephalopathy.
Wang Y; Ji T; Nelson AD; Glanowska K; Murphy GG; Jenkins PM; Parent JM
J Clin Invest; 2018 Feb; 128(2):760-773. PubMed ID: 29337302
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Intrafamilial variability in SPTAN1-related disorder: From benign convulsions with mild gastroenteritis to developmental encephalopathy.
Terrone G; Pinelli M; Bernardo P; Parrini E; Imperati F; Brunetti-Pierri N; Del Giudice E
Eur J Paediatr Neurol; 2020 Sep; 28():237-239. PubMed ID: 32811770
[TBL] [Abstract][Full Text] [Related]
13. New mutations in KCNT2 gene causing early infantile epileptic encephalopathy type 57: Case study and literature review.
Alagoz M; Kherad N; Bozkurt S; Yuksel A
Acta Biochim Pol; 2020 Sep; 67(3):431-434. PubMed ID: 32931186
[TBL] [Abstract][Full Text] [Related]
14. Early infantile epileptic encephalopathy related to NECAP1: Clinical delineation of the disease and review.
Chouery E; Mehawej C; Sabbagh S; Bleik J; Megarbane A
Eur J Neurol; 2022 Aug; 29(8):2486-2492. PubMed ID: 35638367
[TBL] [Abstract][Full Text] [Related]
15. WDR45 mutations in three male patients with West syndrome.
Nakashima M; Takano K; Tsuyusaki Y; Yoshitomi S; Shimono M; Aoki Y; Kato M; Aida N; Mizuguchi T; Miyatake S; Miyake N; Osaka H; Saitsu H; Matsumoto N
J Hum Genet; 2016 Jul; 61(7):653-61. PubMed ID: 27030146
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the Literature.
Lilles S; Talvik I; Noormets K; Vaher U; Õunap K; Reimand T; Sander V; Ilves P; Talvik T
Neuropediatrics; 2016 Dec; 47(6):361-367. PubMed ID: 27599155
[TBL] [Abstract][Full Text] [Related]
18. Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy.
Hamdan FF; Saitsu H; Nishiyama K; Gauthier J; Dobrzeniecka S; Spiegelman D; Lacaille JC; Décarie JC; Matsumoto N; Rouleau GA; Michaud JL
Eur J Hum Genet; 2012 Jul; 20(7):796-800. PubMed ID: 22258530
[TBL] [Abstract][Full Text] [Related]
19. Chromosome 9q33q34 microdeletion with early infantile epileptic encephalopathy, severe dystonia, abnormal eye movements, and nephroureteral malformations.
Matsumoto H; Zaha K; Nakamura Y; Hayashi S; Inazawa J; Nonoyama S
Pediatr Neurol; 2014 Jul; 51(1):170-5. PubMed ID: 24938147
[TBL] [Abstract][Full Text] [Related]
20. A Novel Nonsense Gene Variant Responsible for Early Infantile Epileptic Encephalopathy Type 39: Case Report.
Saleh M; Helmi M; Yacop B
Pak J Biol Sci; 2020 Jan; 23(7):973-976. PubMed ID: 32700846
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]