Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1990 1
1994 5
1995 1
1996 1
2014 2
2015 3
2016 2
2017 4
2018 4
2019 3
2020 4
2021 2
Text availability
Article attribute
Article type
Publication date

Search Results

28 results
Results by year
Filters applied: . Clear all
Page 1
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics, Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC. Helbig KL, et al. Among authors: el achkar cm. Am J Hum Genet. 2018 Nov 1;103(5):666-678. doi: 10.1016/j.ajhg.2018.09.006. Epub 2018 Oct 18. Am J Hum Genet. 2018. PMID: 30343943 Free PMC article.
Characterization of the GABRB2-Associated Neurodevelopmental Disorders.
El Achkar CM, Harrer M, Smith L, Kelly M, Iqbal S, Maljevic S, Niturad CE, Vissers LELM, Poduri A, Yang E, Lal D, Lerche H, Møller RS, Olson HE; GABRB2 Working Group. El Achkar CM, et al. Ann Neurol. 2021 Mar;89(3):573-586. doi: 10.1002/ana.25985. Epub 2020 Dec 24. Ann Neurol. 2021. PMID: 33325057
The genetics of the epilepsies.
El Achkar CM, Olson HE, Poduri A, Pearl PL. El Achkar CM, et al. Curr Neurol Neurosci Rep. 2015 Jul;15(7):39. doi: 10.1007/s11910-015-0559-8. Curr Neurol Neurosci Rep. 2015. PMID: 26008807 Review.
Polymicrogyria is Associated With Pathogenic Variants in PTEN.
Shao DD, Achkar CM, Lai A, Srivastava S, Doan RN, Rodan LH, Chen AY; Brain Development Study Group, Poduri A, Yang E, Walsh CA. Shao DD, et al. Among authors: achkar cm. Ann Neurol. 2020 Dec;88(6):1153-1164. doi: 10.1002/ana.25904. Epub 2020 Oct 8. Ann Neurol. 2020. PMID: 32959437
Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism.
Stergachis AB, Pujol-Giménez J, Gyimesi G, Fuster D, Albano G, Troxler M, Picker J, Rosenberg PA, Bergin A, Peters J, El Achkar CM, Harini C, Manzi S, Rotenberg A, Hediger MA, Rodan LH. Stergachis AB, et al. Among authors: el achkar cm. Ann Neurol. 2019 Jun;85(6):921-926. doi: 10.1002/ana.25477. Epub 2019 Apr 26. Ann Neurol. 2019. PMID: 30937933 Free PMC article.
A Model Program for Translational Medicine in Epilepsy Genetics.
Smith LA, Ullmann JF, Olson HE, Achkar CM, Truglio G, Kelly M, Rosen-Sheidley B, Poduri A. Smith LA, et al. Among authors: achkar cm. J Child Neurol. 2017 Mar;32(4):429-436. doi: 10.1177/0883073816685654. Epub 2017 Jan 6. J Child Neurol. 2017. PMID: 28056630 Free PMC article.
28 results
You have reached the last page of results. A maximum of 10,000 results are available.
Jump to page