PubMed for id: 1809962

Year	Number of Results
1993	1
1996	1
2010	1
2011	1
2018	4
2019	2
2020	3
2022	5
2023	4

1

Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder.

Alvarez C, Grimmel M, Ebrahimi-Fakhari D, Paul VG, Deininger N, Riess A, Haack T, Gardella E, Møller RS, Bayat A. Alvarez C, et al. Clin Genet. 2023 May;103(5):566-573. doi: 10.1111/cge.14275. Epub 2023 Jan 11. Clin Genet. 2023. PMID: 36453471 Review.

2

Aminoacylation-defective bi-allelic mutations in human EPRS1 associated with psychomotor developmental delay, epilepsy, and deafness.

Jin D, Wek SA, Cordova RA, Wek RC, Lacombe D, Michaud V, Musier-Forsyth K. Jin D, et al. Clin Genet. 2023 Mar;103(3):358-363. doi: 10.1111/cge.14269. Epub 2022 Dec 1. Clin Genet. 2023. PMID: 36411955 Free PMC article.

3

BCOR variants are associated with X-linked recessive partial epilepsy.

Li X, Bian WJ, Liu XR, Wang J, Luo S, Li BM, Yi YH, Wu QY, Zhai QX, Gao LD, Zhang HF, He N, Liao WP; China Epilepsy Gene 1.0 Project. Li X, et al. Epilepsy Res. 2022 Nov;187:107036. doi: 10.1016/j.eplepsyres.2022.107036. Epub 2022 Oct 19. Epilepsy Res. 2022. PMID: 36279688

4

Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.

Guerrini R, Conti V, Mantegazza M, Balestrini S, Galanopoulou AS, Benfenati F. Guerrini R, et al. Physiol Rev. 2023 Jan 1;103(1):433-513. doi: 10.1152/physrev.00063.2021. Epub 2022 Aug 11. Physiol Rev. 2023. PMID: 35951482 Review.

5

Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.

Scheffer IE, Bennett CA, Gill D, de Silva MG, Boggs K, Marum J, Baker N; Australian Genomics DEE Flagship; Palmer EE, Howell KB. Scheffer IE, et al. Dev Med Child Neurol. 2023 Jan;65(1):50-57. doi: 10.1111/dmcn.15308. Epub 2022 Jun 14. Dev Med Child Neurol. 2023. PMID: 35701389

6

Infantile spasms: Assessing the diagnostic yield of an institutional guideline and the impact of etiology on long-term treatment response.

Chourasia N, Yuskaitis CJ, Libenson MH, Bergin AM, Liu S, Zhang B, Poduri A, Harini C. Chourasia N, et al. Epilepsia. 2022 May;63(5):1164-1176. doi: 10.1111/epi.17209. Epub 2022 Mar 18. Epilepsia. 2022. PMID: 35211955

7

Case-control association study of rare nonsynonymous variants of SCN1A and KCNQ2 in acute encephalopathy with biphasic seizures and late reduced diffusion.

Shibata A, Kasai M, Terashima H, Hoshino A, Miyagawa T, Kikuchi K, Ishii A, Matsumoto H, Kubota M, Hirose S, Oka A, Mizuguchi M. Shibata A, et al. J Neurol Sci. 2020 Jul 15;414:116808. doi: 10.1016/j.jns.2020.116808. Epub 2020 Apr 2. J Neurol Sci. 2020. PMID: 32276107

8

Ion Channel Functions in Early Brain Development.

Smith RS, Walsh CA. Smith RS, et al. Trends Neurosci. 2020 Feb;43(2):103-114. doi: 10.1016/j.tins.2019.12.004. Epub 2020 Jan 17. Trends Neurosci. 2020. PMID: 31959360 Free PMC article. Review.

9

Adolescent behavioral abnormalities in a Scn1a^+/- mouse model of Dravet syndrome.

Bahceci D, Anderson LL, Occelli Hanbury Brown CV, Zhou C, Arnold JC. Bahceci D, et al. Epilepsy Behav. 2020 Feb;103(Pt A):106842. doi: 10.1016/j.yebeh.2019.106842. Epub 2019 Dec 20. Epilepsy Behav. 2020. PMID: 31870807

10

A Single-Cell Transcriptomic Atlas of Human Neocortical Development during Mid-gestation.

Polioudakis D, de la Torre-Ubieta L, Langerman J, Elkins AG, Shi X, Stein JL, Vuong CK, Nichterwitz S, Gevorgian M, Opland CK, Lu D, Connell W, Ruzzo EK, Lowe JK, Hadzic T, Hinz FI, Sabri S, Lowry WE, Gerstein MB, Plath K, Geschwind DH. Polioudakis D, et al. Neuron. 2019 Sep 4;103(5):785-801.e8. doi: 10.1016/j.neuron.2019.06.011. Epub 2019 Jul 11. Neuron. 2019. PMID: 31303374 Free PMC article.

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