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

Year Number of Results
1984 2
1986 2
1987 1
1988 1
1990 1
1992 2
2011 1
2012 2
2013 1
2015 5
2016 5
2017 9
2018 7
2019 8
2020 14
2021 13
2022 8
2023 8

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74 results

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Page 1
The phenotypic spectrum of SCN2A-related epilepsy.
Reynolds C, King MD, Gorman KM. Reynolds C, et al. Among authors: gorman km. Eur J Paediatr Neurol. 2020 Jan;24:117-122. doi: 10.1016/j.ejpn.2019.12.016. Epub 2019 Dec 12. Eur J Paediatr Neurol. 2020. PMID: 31924505 Review.
Paroxysmal Movement Disorders.
Harvey S, King MD, Gorman KM. Harvey S, et al. Among authors: gorman km. Front Neurol. 2021 Jun 11;12:659064. doi: 10.3389/fneur.2021.659064. eCollection 2021. Front Neurol. 2021. PMID: 34177764 Free PMC article. Review.
NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families.
Al Shehhi M, Forman EB, Fitzgerald JE, McInerney V, Krawczyk J, Shen S, Betts DR, Ardle LM, Gorman KM, King MD, Green A, Gallagher L, Lynch SA. Al Shehhi M, et al. Among authors: gorman km. Eur J Med Genet. 2019 Mar;62(3):204-209. doi: 10.1016/j.ejmg.2018.07.015. Epub 2018 Jul 18. Eur J Med Genet. 2019. PMID: 30031152
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Cif L, Demailly D, Lin JP, Barwick KE, Sa M, Abela L, Malhotra S, Chong WK, Steel D, Sanchis-Juan A, Ngoh A, Trump N, Meyer E, Vasques X, Rankin J, Allain MW, Applegate CD, Attaripour Isfahani S, Baleine J, Balint B, Bassetti JA, Baple EL, Bhatia KP, Blanchet C, Burglen L, Cambonie G, Seng EC, Bastaraud SC, Cyprien F, Coubes C, d'Hardemare V; Deciphering Developmental Disorders Study; Doja A, Dorison N, Doummar D, Dy-Hollins ME, Farrelly E, Fitzpatrick DR, Fearon C, Fieg EL, Fogel BL, Forman EB, Fox RG; Genomics England Research Consortium; Gahl WA, Galosi S, Gonzalez V, Graves TD, Gregory A, Hallett M, Hasegawa H, Hayflick SJ, Hamosh A, Hully M, Jansen S, Jeong SY, Krier JB, Krystal S, Kumar KR, Laurencin C, Lee H, Lesca G, François LL, Lynch T, Mahant N, Martinez-Agosto JA, Milesi C, Mills KA, Mondain M, Morales-Briceno H; NIHR BioResource; Ostergaard JR, Pal S, Pallais JC, Pavillard F, Perrigault PF, Petersen AK, Polo G, Poulen G, Rinne T, Roujeau T, Rogers C, Roubertie A, Sahagian M, Schaefer E, Selim L, Selway R, Sharma N, Signer R, Soldatos AG, Stevenson DA, Stewart F, Tchan M; Undiagnosed Diseases Network; Verma IC, de Vries BBA, Wilson JL, Wong DA, Zaitoun R, Zhen D, Znacz… See abstract for full author list ➔ Cif L, et al. Among authors: gorman km. Brain. 2020 Dec 5;143(11):3242-3261. doi: 10.1093/brain/awaa304. Brain. 2020. PMID: 33150406 Free PMC article.
4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2-encephalopathy.
Hedrich UBS, Lauxmann S, Wolff M, Synofzik M, Bast T, Binelli A, Serratosa JM, Martínez-Ulloa P, Allen NM, King MD, Gorman KM, Zeev BB, Tzadok M, Wong-Kisiel L, Marjanovic D, Rubboli G, Sisodiya SM, Lutz F, Ashraf HP, Torge K, Yan P, Bosselmann C, Schwarz N, Fudali M, Lerche H. Hedrich UBS, et al. Among authors: gorman km. Sci Transl Med. 2021 Sep;13(609):eaaz4957. doi: 10.1126/scitranslmed.aaz4957. Epub 2021 Sep 1. Sci Transl Med. 2021. PMID: 34516822
Mitochondrial diagnosis revisited.
Lagan NC, Gorman KM, King MD. Lagan NC, et al. Among authors: gorman km. Eur J Paediatr Neurol. 2017 Jul;21(4):685-686. doi: 10.1016/j.ejpn.2017.03.004. Epub 2017 Mar 24. Eur J Paediatr Neurol. 2017. PMID: 28389061 No abstract available.
Editorial: Improving medical diagnosis in rare diseases.
Linhares ND, Gorman KM, Brusco A. Linhares ND, et al. Among authors: gorman km. Front Genet. 2022 Sep 6;13:974129. doi: 10.3389/fgene.2022.974129. eCollection 2022. Front Genet. 2022. PMID: 36147485 Free PMC article. No abstract available.
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5.
Happ HC, Sadleir LG, Zemel M, de Valles-Ibáñez G, Hildebrand MS, McConkie-Rosell A, McDonald M, May H, Sands T, Aggarwal V, Elder C, Feyma T, Bayat A, Møller RS, Fenger CD, Klint Nielsen JE, Datta AN, Gorman KM, King MD, Linhares ND, Burton BK, Paras A, Ellard S, Rankin J, Shukla A, Majethia P, Olson RJ, Muthusamy K, Schimmenti LA, Starnes K, Sedláčková L, Štěrbová K, Vlčková M, Laššuthová P, Jahodová A, Porter BE, Couque N, Colin E, Prouteau C, Collet C, Smol T, Caumes R, Vansenne F, Bisulli F, Licchetta L, Person R, Torti E, McWalter K, Webster R, Gerard EE, Lesca G, Szepetowski P, Scheffer IE, Mefford HC, Carvill GL. Happ HC, et al. Among authors: gorman km. Neurology. 2023 Feb 7;100(6):e603-e615. doi: 10.1212/WNL.0000000000201492. Epub 2022 Oct 28. Neurology. 2023. PMID: 36307226 Free PMC article.
A Quiver of the Chin.
McGrath CP, Gorman KM, King MD. McGrath CP, et al. Among authors: gorman km. Pediatr Neurol. 2019 Oct;99:91. doi: 10.1016/j.pediatrneurol.2019.04.022. Epub 2019 May 2. Pediatr Neurol. 2019. PMID: 31160121 No abstract available.
Dystonia in children with acquired brain injury.
Pentony M, Featherstone M, Sheikh Y, Stroiescu A, Bruell H, Gill I, Gorman KM. Pentony M, et al. Among authors: gorman km. Eur J Paediatr Neurol. 2022 Nov;41:41-47. doi: 10.1016/j.ejpn.2022.09.004. Epub 2022 Sep 27. Eur J Paediatr Neurol. 2022. PMID: 36209658
74 results