Similar articles for PMID: 32062104

Year	Number of Results
2007	2
2010	1
2011	3
2012	3
2013	4
2014	8
2015	10
2016	12
2017	26
2018	15
2019	16
2020	18
2021	8
2022	4
2023	1
2024	0

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. Long K, et al. Epilepsy Behav. 2020 Apr;105:106955. doi: 10.1016/j.yebeh.2020.106955. Epub 2020 Feb 13. Epilepsy Behav. 2020. PMID: 32062104

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. Nakajima J, et al. Clin Genet. 2015 Apr;87(4):356-61. doi: 10.1111/cge.12394. Epub 2014 Apr 29. Clin Genet. 2015. PMID: 24697219

3

Mild epileptic phenotype associates with de novo eef1a2 mutation: Case report and review.

De Rinaldis M, Giorda R, Trabacca A. De Rinaldis M, et al. Brain Dev. 2020 Jan;42(1):77-82. doi: 10.1016/j.braindev.2019.08.001. Epub 2019 Aug 30. Brain Dev. 2020. PMID: 31477274 Review.

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. Wang JY, et al. Neurogenetics. 2018 Jan;19(1):9-16. doi: 10.1007/s10048-017-0528-2. Epub 2017 Nov 13. Neurogenetics. 2018. PMID: 29130122

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. Inui T, et al. Brain Dev. 2016 May;38(5):520-4. doi: 10.1016/j.braindev.2015.11.003. Epub 2015 Dec 10. Brain Dev. 2016. PMID: 26682508

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. Carvill GL, et al. Hum Mutat. 2020 Jul;41(7):1263-1279. doi: 10.1002/humu.24015. Epub 2020 Apr 6. Hum Mutat. 2020. PMID: 32196822 Free PMC article.

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. Davies FCJ, et al. Hum Mol Genet. 2020 Jun 27;29(10):1592-1606. doi: 10.1093/hmg/ddaa042. Hum Mol Genet. 2020. PMID: 32160274

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. Nakashima M, et al. Epilepsia. 2016 Jan;57(1):e18-23. doi: 10.1111/epi.13257. Epub 2015 Nov 27. Epilepsia. 2016. PMID: 26611353 Free article.

9

Predicting epileptic encephalopathy using mutation site analysis and in silico algorithms.

Inui T, Kobayashi S, Haginoya K. Inui T, et al. Epilepsy Behav. 2020 Aug;109:107085. doi: 10.1016/j.yebeh.2020.107085. Epub 2020 Apr 16. Epilepsy Behav. 2020. PMID: 32307258 No abstract available.

10

A Novel X-Linked Variant of IQSEC2 is Associated with Lennox-Gastaut Syndrome and Mild Intellectual Disability in Three Generations of a Korean Family.

Choi MH, Yang JO, Min JS, Lee JJ, Jun SY, Lee YJ, Yoon JY, Jeon SJ, Byeon I, Kang JW, Kim NS. Choi MH, et al. Genet Test Mol Biomarkers. 2020 Jan;24(1):54-58. doi: 10.1089/gtmb.2019.0177. Epub 2019 Dec 12. Genet Test Mol Biomarkers. 2020. PMID: 31829726

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