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Ectopic HCN4 Provides a Target Biomarker for the Genetic Spectrum of mTORopathies.
Coleman M, Pinares-Garcia P, Stephenson SE, Lee WS, Kooshavar D, Mclean CA, Howell KB, Leventer RJ, Reid CA, Lockhart PJ. Coleman M, et al. Among authors: reid ca. Neurol Genet. 2024 Mar 11;10(2):e200135. doi: 10.1212/NXG.0000000000200135. eCollection 2024 Apr. Neurol Genet. 2024. PMID: 38496361 Free PMC article.
Retinal Dysfunction in a Mouse Model of HCN1 Genetic Epilepsy.
Zhao D, Pinares-Garcia P, McKenzie CE, Bleakley LE, Forster IC, Wong VHY, Nguyen CTO, Scheffer IE, Reid CA, Bui BV. Zhao D, et al. Among authors: reid ca. J Neurosci. 2023 Mar 22;43(12):2199-2209. doi: 10.1523/JNEUROSCI.1615-22.2022. Epub 2023 Feb 22. J Neurosci. 2023. PMID: 36813574 Free PMC article.
Antidepressant-like activity of a brain penetrant HCN channel inhibitor in mice.
Pinares-Garcia P, Spyrou J, McKenzie CE, Forster IC, Soh MS, Mohamed Syazwan E, Atif M, Reid CA. Pinares-Garcia P, et al. Among authors: reid ca. Front Pharmacol. 2023 May 10;14:1159527. doi: 10.3389/fphar.2023.1159527. eCollection 2023. Front Pharmacol. 2023. PMID: 37234718 Free PMC article.
A targeted resequencing gene panel for focal epilepsy.
Hildebrand MS, Myers CT, Carvill GL, Regan BM, Damiano JA, Mullen SA, Newton MR, Nair U, Gazina EV, Milligan CJ, Reid CA, Petrou S, Scheffer IE, Berkovic SF, Mefford HC. Hildebrand MS, et al. Among authors: reid ca. Neurology. 2016 Apr 26;86(17):1605-12. doi: 10.1212/WNL.0000000000002608. Epub 2016 Mar 30. Neurology. 2016. PMID: 27029629 Free PMC article.
Functional variants in HCN4 and CACNA1H may contribute to genetic generalized epilepsy.
Becker F, Reid CA, Hallmann K, Tae HS, Phillips AM, Teodorescu G, Weber YG, Kleefuss-Lie A, Elger C, Perez-Reyes E, Petrou S, Kunz WS, Lerche H, Maljevic S. Becker F, et al. Among authors: reid ca. Epilepsia Open. 2017 Aug 5;2(3):334-342. doi: 10.1002/epi4.12068. eCollection 2017 Sep. Epilepsia Open. 2017. PMID: 29588962 Free PMC article.
Loss-of-function variants in Kv 11.1 cardiac channels as a biomarker for SUDEP.
Soh MS, Bagnall RD, Bennett MF, Bleakley LE, Mohamed Syazwan ES, Phillips AM, Chiam MDF, McKenzie CE, Hildebrand M, Crompton D, Bahlo M, Semsarian C, Scheffer IE, Berkovic SF, Reid CA. Soh MS, et al. Among authors: reid ca. Ann Clin Transl Neurol. 2021 Jul;8(7):1422-1432. doi: 10.1002/acn3.51381. Epub 2021 May 18. Ann Clin Transl Neurol. 2021. PMID: 34002542 Free PMC article.
Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders.
Houdayer C, Phillips AM, Chabbert M, Bourreau J, Maroofian R, Houlden H, Richards K, Saadi NW, Dad'ová E, Van Bogaert P, Rupin M, Keren B, Charles P, Smol T, Riquet A, Pais L, O'Donnell-Luria A, VanNoy GE, Bayat A, Møller RS, Olofsson K, Abou Jamra R, Syrbe S, Dasouki M, Seaver LH, Sullivan JA, Shashi V, Alkuraya FS, Poss AF, Spence JE, Schnur RE, Forster IC, Mckenzie CE, Simons C, Wang M, Snell P, Kothur K, Buckley M, Roscioli T, Elserafy N, Dauriat B, Procaccio V, Henrion D, Lenaers G, Colin E, Verbeek NE, Van Gassen KL, Legendre C, Bonneau D, Reid CA, Howell KB, Ziegler A, Legros C. Houdayer C, et al. Among authors: reid ca. medRxiv [Preprint]. 2024 Mar 22:2024.03.19.24303984. doi: 10.1101/2024.03.19.24303984. medRxiv. 2024. PMID: 38562733 Free PMC article. Preprint.
206 results