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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.
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 and genetic spectrum of SCN2A-associated episodic ataxia.
Schwarz N, Bast T, Gaily E, Golla G, Gorman KM, Griffiths LR, Hahn A, Hukin J, King M, Korff C, Miranda MJ, Møller RS, Neubauer B, Smith RA, Smol T, Striano P, Stroud B, Vaccarezza M, Kluger G, Lerche H, Fazeli W. Schwarz N, et al. Eur J Paediatr Neurol. 2019 May;23(3):438-447. doi: 10.1016/j.ejpn.2019.03.001. Epub 2019 Mar 7. Eur J Paediatr Neurol. 2019. PMID: 30928199
The variable phenotypes of KCNQ-related epilepsy.
Allen NM, Mannion M, Conroy J, Lynch SA, Shahwan A, Lynch B, King MD. Allen NM, et al. Among authors: king md. Epilepsia. 2014 Sep;55(9):e99-105. doi: 10.1111/epi.12715. Epub 2014 Jul 22. Epilepsia. 2014. PMID: 25052858 Free article.
331 results