344 related articles for article (PubMed ID: 35545418)
1.
Chen S; Deng X; Xiong J; Chen B; He F; Yang L; Yang L; Peng J; Yin F
Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2022 Feb; 47(2):265-270. PubMed ID: 35545418
[TBL] [Abstract][Full Text] [Related]
2. Clinical spectrum of KIAA2022/NEXMIF pathogenic variants in males and females: Report of three patients from Indian kindred with a review of published patients.
Panda PK; Sharawat IK; Joshi K; Dawman L; Bolia R
Brain Dev; 2020 Oct; 42(9):646-654. PubMed ID: 32600841
[TBL] [Abstract][Full Text] [Related]
3. NEXMIF variants are associated with epilepsy with or without intellectual disability.
Ye ZL; Yan HJ; Guo QH; Zhang SQ; Luo S; Lian YJ; Ma YQ; Lu XG; Liu XR; Shen NX; Gao LD; Chen Z; Shi YW
Seizure; 2024 Mar; 116():93-99. PubMed ID: 37643945
[TBL] [Abstract][Full Text] [Related]
4. [A novel mutation in KCNB1 gene in a child with neuropsychiatric comorbidities with both intellectual disability and epilepsy and review of literature].
Miao P; Peng J; Chen C; Gai N; Yin F
Zhonghua Er Ke Za Zhi; 2017 Feb; 55(2):115-119. PubMed ID: 28173649
[No Abstract] [Full Text] [Related]
5. Novel NEXMIF gene pathogenic variant in a female patient with refractory epilepsy and intellectual disability.
Wu D; Ji C; Chen Z; Wang K
Am J Med Genet A; 2020 Nov; 182(11):2765-2772. PubMed ID: 32924309
[TBL] [Abstract][Full Text] [Related]
6. Torpedo Maculopathy Associated with
Alarcon-Martinez T; Khan A; Myers KA
Mol Syndromol; 2019 Jul; 10(4):229-233. PubMed ID: 31602197
[TBL] [Abstract][Full Text] [Related]
7. Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.
Baasch AL; Hüning I; Gilissen C; Klepper J; Veltman JA; Gillessen-Kaesbach G; Hoischen A; Lohmann K
Epilepsia; 2014 Apr; 55(4):e25-9. PubMed ID: 24579881
[TBL] [Abstract][Full Text] [Related]
8. NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
Stamberger H; Hammer TB; Gardella E; Vlaskamp DRM; Bertelsen B; Mandelstam S; de Lange I; Zhang J; Myers CT; Fenger C; Afawi Z; Almanza Fuerte EP; Andrade DM; Balcik Y; Ben Zeev B; Bennett MF; Berkovic SF; Isidor B; Bouman A; Brilstra E; Busk ØL; Cairns A; Caumes R; Chatron N; Dale RC; de Geus C; Edery P; Gill D; Granild-Jensen JB; Gunderson L; Gunning B; Heimer G; Helle JR; Hildebrand MS; Hollingsworth G; Kharytonov V; Klee EW; Koeleman BPC; Koolen DA; Korff C; Küry S; Lesca G; Lev D; Leventer RJ; Mackay MT; Macke EL; McEntagart M; Mohammad SS; Monin P; Montomoli M; Morava E; Moutton S; Muir AM; Parrini E; Procopis P; Ranza E; Reed L; Reif PS; Rosenow F; Rossi M; Sadleir LG; Sadoway T; Schelhaas HJ; Schneider AL; Shah K; Shalev R; Sisodiya SM; Smol T; Stumpel CTRM; Stuurman K; Symonds JD; Mau-Them FT; Verbeek N; Verhoeven JS; Wallace G; Yosovich K; Zarate YA; Zerem A; Zuberi SM; Guerrini R; Mefford HC; Patel C; Zhang YH; Møller RS; Scheffer IE
Genet Med; 2021 Feb; 23(2):363-373. PubMed ID: 33144681
[TBL] [Abstract][Full Text] [Related]
9. Clonazepam as an Effective Treatment for Epilepsy in a Female Patient with
Ogasawara M; Nakagawa E; Takeshita E; Hamanaka K; Miyatake S; Matsumoto N; Sasaki M
Mol Syndromol; 2020 Nov; 11(4):232-237. PubMed ID: 33224018
[TBL] [Abstract][Full Text] [Related]
10. MED13 mutation: A novel cause of developmental and epileptic encephalopathy with infantile spasms.
Trivisano M; De Dominicis A; Micalizzi A; Ferretti A; Dentici ML; Terracciano A; Calabrese C; Vigevano F; Novelli G; Novelli A; Specchio N
Seizure; 2022 Oct; 101():211-217. PubMed ID: 36087421
[TBL] [Abstract][Full Text] [Related]
11. Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
Kim HG; Rosenfeld JA; Scott DA; Bénédicte G; Labonne JD; Brown J; McGuire M; Mahida S; Naidu S; Gutierrez J; Lesca G; des Portes V; Bruel AL; Sorlin A; Xia F; Capri Y; Muller E; McKnight D; Torti E; Rüschendorf F; Hummel O; Islam Z; Kolatkar PR; Layman LC; Ryu D; Kong IK; Madan-Khetarpal S; Kim CH
Mol Autism; 2019; 10():35. PubMed ID: 31649809
[TBL] [Abstract][Full Text] [Related]
12. Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother.
Lambert N; Dauve C; Ranza E; Makrythanasis P; Santoni F; Sloan-Béna F; Gimelli S; Blouin JL; Guipponi M; Bottani A; Antonarakis SE; Kosel MM; Fluss J; Paoloni-Giacobino A
J Hum Genet; 2018 Jul; 63(7):847-850. PubMed ID: 29717186
[TBL] [Abstract][Full Text] [Related]
13. Report of a de novo c.2605C > T (p.Pro869Ser) change in the MED13L gene and review of the literature for MED13L-related intellectual disability.
Yi Z; Zhang Y; Song Z; Pan H; Yang C; Li F; Xue J; Qu Z
Ital J Pediatr; 2020 Jul; 46(1):95. PubMed ID: 32646507
[TBL] [Abstract][Full Text] [Related]
14. [A case of Okur-Chung syndrome caused by CSNK2A1 gene variation and review of literature].
Duan HL; Peng J; Pang N; Chen SM; Xiong J; Guang SQ; Yin F
Zhonghua Er Ke Za Zhi; 2019 May; 57(5):368-372. PubMed ID: 31060130
[No Abstract] [Full Text] [Related]
15. 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]
16. Clinical phenotype and genetic characteristics of SZT2 related diseases: A case report and literature review.
Zhang X; Han Y; Yang L; Xu N; Zhu L; Qiu S; Li Y; Xu L; Yu X
Seizure; 2024 Jan; 114():111-120. PubMed ID: 38134649
[TBL] [Abstract][Full Text] [Related]
17. Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene.
Barrie ES; Cottrell CE; Gastier-Foster J; Hickey SE; Patel AD; Santoro SL; Alfaro MP
Eur J Med Genet; 2020 Mar; 63(3):103735. PubMed ID: 31415821
[TBL] [Abstract][Full Text] [Related]
18. Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.
Kuroda Y; Ohashi I; Naruto T; Ida K; Enomoto Y; Saito T; Nagai J; Wada T; Kurosawa K
Am J Med Genet A; 2015 Jun; 167(6):1349-53. PubMed ID: 25900396
[TBL] [Abstract][Full Text] [Related]
19. [Dynamin-1-related infantile spasms: a case report and review of literature].
Deng XL; Yin F; Zhang CL; Ma YP; He F; Wu LW; Peng J
Zhonghua Er Ke Za Zhi; 2016 Nov; 54(11):856-859. PubMed ID: 27806796
[No Abstract] [Full Text] [Related]
20. MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review.
Rocha H; Sampaio M; Rocha R; Fernandes S; Leão M
Eur J Med Genet; 2016 Sep; 59(9):478-82. PubMed ID: 27255693
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]