153 related articles for article (PubMed ID: 32062104)
1. EEF1A2 mutations in epileptic encephalopathy/intellectual disability: Understanding the potential mechanism of phenotypic variation.
Long K; Wang H; Song Z; Yin X; Wang Y
Epilepsy Behav; 2020 Apr; 105():106955. PubMed ID: 32062104
[TBL] [Abstract][Full Text] [Related]
2. De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy.
Nakajima J; Okamoto N; Tohyama J; Kato M; Arai H; Funahashi O; Tsurusaki Y; Nakashima M; Kawashima H; Saitsu H; Matsumoto N; Miyake N
Clin Genet; 2015 Apr; 87(4):356-61. PubMed ID: 24697219
[TBL] [Abstract][Full Text] [Related]
3. Mild epileptic phenotype associates with de novo eef1a2 mutation: Case report and review.
De Rinaldis M; Giorda R; Trabacca A
Brain Dev; 2020 Jan; 42(1):77-82. PubMed ID: 31477274
[TBL] [Abstract][Full Text] [Related]
4. ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation.
Wang JY; Zhou P; Wang J; Tang B; Su T; Liu XR; Li BM; Meng H; Shi YW; Yi YH; He N; Liao WP
Neurogenetics; 2018 Jan; 19(1):9-16. PubMed ID: 29130122
[TBL] [Abstract][Full Text] [Related]
5. Two cases of early-onset myoclonic seizures with continuous parietal delta activity caused by EEF1A2 mutations.
Inui T; Kobayashi S; Ashikari Y; Sato R; Endo W; Uematsu M; Oba H; Saitsu H; Matsumoto N; Kure S; Haginoya K
Brain Dev; 2016 May; 38(5):520-4. PubMed ID: 26682508
[TBL] [Abstract][Full Text] [Related]
6. Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy.
Carvill GL; Helbig KL; Myers CT; Scala M; Huether R; Lewis S; Kruer TN; Guida BS; Bakhtiari S; Sebe J; Tang S; Stickney H; Oktay SU; Bhandiwad AA; Ramsey K; Narayanan V; Feyma T; Rohena LO; Accogli A; Severino M; Hollingsworth G; Gill D; Depienne C; Nava C; Sadleir LG; Caruso PA; Lin AE; Jansen FE; Koeleman B; Brilstra E; Willemsen MH; Kleefstra T; Sa J; Mathieu ML; Perrin L; Lesca G; Striano P; Casari G; Scheffer IE; Raible D; Sattlegger E; Capra V; Padilla-Lopez S; Mefford HC; Kruer MC
Hum Mutat; 2020 Jul; 41(7):1263-1279. PubMed ID: 32196822
[TBL] [Abstract][Full Text] [Related]
7. Recapitulation of the EEF1A2 D252H neurodevelopmental disorder-causing missense mutation in mice reveals a toxic gain of function.
Davies FCJ; Hope JE; McLachlan F; Marshall GF; Kaminioti-Dumont L; Qarkaxhija V; Nunez F; Dando O; Smith C; Wood E; MacDonald J; Hardt O; Abbott CM
Hum Mol Genet; 2020 Jun; 29(10):1592-1606. PubMed ID: 32160274
[TBL] [Abstract][Full Text] [Related]
8. De novo DNM1 mutations in two cases of epileptic encephalopathy.
Nakashima M; Kouga T; Lourenço CM; Shiina M; Goto T; Tsurusaki Y; Miyatake S; Miyake N; Saitsu H; Ogata K; Osaka H; Matsumoto N
Epilepsia; 2016 Jan; 57(1):e18-23. PubMed ID: 26611353
[TBL] [Abstract][Full Text] [Related]
9. Predicting epileptic encephalopathy using mutation site analysis and in silico algorithms.
Inui T; Kobayashi S; Haginoya K
Epilepsy Behav; 2020 Aug; 109():107085. PubMed ID: 32307258
[No Abstract] [Full Text] [Related]
10. A Novel X-Linked Variant of
Choi MH; Yang JO; Min JS; Lee JJ; Jun SY; Lee YJ; Yoon JY; Jeon SJ; Byeon I; Kang JW; Kim NS
Genet Test Mol Biomarkers; 2020 Jan; 24(1):54-58. PubMed ID: 31829726
[No Abstract] [Full Text] [Related]
11. 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]
12. Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death.
Cao S; Smith LL; Padilla-Lopez SR; Guida BS; Blume E; Shi J; Morton SU; Brownstein CA; Beggs AH; Kruer MC; Agrawal PB
Hum Mol Genet; 2017 Sep; 26(18):3545-3552. PubMed ID: 28911200
[TBL] [Abstract][Full Text] [Related]
13. Few individuals with Lennox-Gastaut syndrome have autism spectrum disorder: a comparison with Dravet syndrome.
He N; Li BM; Li ZX; Wang J; Liu XR; Meng H; Tang B; Bian WJ; Shi YW; Liao WP
J Neurodev Disord; 2018 Mar; 10(1):10. PubMed ID: 29558884
[TBL] [Abstract][Full Text] [Related]
14. Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability.
Lam WW; Millichap JJ; Soares DC; Chin R; McLellan A; FitzPatrick DR; Elmslie F; Lees MM; Schaefer GB; ; Abbott CM
Mol Genet Genomic Med; 2016 Jul; 4(4):465-74. PubMed ID: 27441201
[TBL] [Abstract][Full Text] [Related]
15. The role of translation elongation factor eEF1 subunits in neurodevelopmental disorders.
McLachlan F; Sires AM; Abbott CM
Hum Mutat; 2019 Feb; 40(2):131-141. PubMed ID: 30370994
[TBL] [Abstract][Full Text] [Related]
16. A case of Lennox-Gastaut syndrome in a patient with FOXG1-related disorder.
Terrone G; Bienvenu T; Germanaud D; Barthez-Carpentier MA; Diebold B; Delanoe C; Passemard S; Auvin S
Epilepsia; 2014 Nov; 55(11):e116-9. PubMed ID: 25266269
[TBL] [Abstract][Full Text] [Related]
17. Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
Ohba C; Kato M; Takahashi S; Lerman-Sagie T; Lev D; Terashima H; Kubota M; Kawawaki H; Matsufuji M; Kojima Y; Tateno A; Goldberg-Stern H; Straussberg R; Marom D; Leshinsky-Silver E; Nakashima M; Nishiyama K; Tsurusaki Y; Miyake N; Tanaka F; Matsumoto N; Saitsu H
Epilepsia; 2014 Jul; 55(7):994-1000. PubMed ID: 24888894
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Overlap of the Pitt-Hopkins and Lennox-Gastaut syndromes.
Sulentic V; Petelin Gadze Z; Dapic Ivancic B; Mrak G; Borovecki F
Acta Neurol Belg; 2020 Apr; 120(2):399-401. PubMed ID: 30426346
[No Abstract] [Full Text] [Related]
20. Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum.
Yoshida M; Nakashima M; Okanishi T; Kanai S; Fujimoto A; Itomi K; Morimoto M; Saitsu H; Kato M; Matsumoto N; Chiyonobu T
Clin Genet; 2018 Feb; 93(2):368-373. PubMed ID: 28589569
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]