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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: king md. Sci Transl Med. 2021 Sep;13(609):eaaz4957. doi: 10.1126/scitranslmed.aaz4957. Epub 2021 Sep 1. Sci Transl Med. 2021. PMID: 34516822
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.
Masnada S, Hedrich UBS, Gardella E, Schubert J, Kaiwar C, Klee EW, Lanpher BC, Gavrilova RH, Synofzik M, Bast T, Gorman K, King MD, Allen NM, Conroy J, Ben Zeev B, Tzadok M, Korff C, Dubois F, Ramsey K, Narayanan V, Serratosa JM, Giraldez BG, Helbig I, Marsh E, O'Brien M, Bergqvist CA, Binelli A, Porter B, Zaeyen E, Horovitz DD, Wolff M, Marjanovic D, Caglayan HS, Arslan M, Pena SDJ, Sisodiya SM, Balestrini S, Syrbe S, Veggiotti P, Lemke JR, Møller RS, Lerche H, Rubboli G. Masnada S, et al. Among authors: king md. Brain. 2017 Sep 1;140(9):2337-2354. doi: 10.1093/brain/awx184. Brain. 2017. PMID: 29050392 Free article.
The phenotypic spectrum of SCN2A-related epilepsy.
Reynolds C, King MD, Gorman KM. Reynolds C, et al. Among authors: king md. 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.
Generation of three induced pluripotent stem cell (iPSC) lines from a patient with developmental epileptic encephalopathy due to the pathogenic KCNA2 variant c.869T>G; p.Leu290Arg (NUIGi052-A, NUIGi052-B, NUIGi052-C).
Arbini A, Gilmore J, King MD, Gorman KM, Krawczyk J, McInerney V, O'Brien T, Shen S, Allen NM. Arbini A, et al. Among authors: king md. Stem Cell Res. 2020 Jul;46:101853. doi: 10.1016/j.scr.2020.101853. Epub 2020 Jun 1. Stem Cell Res. 2020. PMID: 32540721 Free article.
Footloose: Spinal Myoclonus after Myelomeningocele Repair.
Gorman KM, King MD. Gorman KM, et al. Among authors: king md. J Pediatr. 2016 Jun;173:261-261.e1. doi: 10.1016/j.jpeds.2016.02.032. Epub 2016 Mar 9. J Pediatr. 2016. PMID: 26968832 No abstract available.
A Quiver of the Chin.
McGrath CP, Gorman KM, King MD. McGrath CP, et al. Among authors: king md. 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.
Paroxysmal Movement Disorders.
Harvey S, King MD, Gorman KM. Harvey S, et al. Among authors: king md. Front Neurol. 2021 Jun 11;12:659064. doi: 10.3389/fneur.2021.659064. eCollection 2021. Front Neurol. 2021. PMID: 34177764 Free PMC article. Review.
331 results