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49 results

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Page 1
SETD1B-associated neurodevelopmental disorder.
Roston A, Evans D, Gill H, McKinnon M, Isidor B, Cogné B, Mwenifumbo J, van Karnebeek C, An J, Jones SJM, Farrer M, Demos M, Connolly M, Gibson WT; CAUSES Study; EPGEN Study. Roston A, et al. J Med Genet. 2021 Mar;58(3):196-204. doi: 10.1136/jmedgenet-2019-106756. Epub 2020 Jun 16. J Med Genet. 2021. PMID: 32546566
Dravet syndrome: From neurodevelopmental to neurodegenerative disease?
Selvarajah A, Sabo A, Gorodetsky C, Marques PT, Chandran I, Thompson M, Zulfiqar Ali Q, McAndrews MP, Tartaglia MC, Lira VST, Huh L, Connolly M, Rezazadeh A, Qaiser F, Fantaneanu TA, Duong M, Barboza K, Lomax LB, Inuzuka Nakaharada L, Valente K, Arbinuch J, Espindola M, Garzon E, Sorrento G, Meskis MA, Villas N, Hood V, Gonzalez M, Cardenal-Muñoz E, Aiba JA, McKenna L, Linehan C, Hohn S, Auvin S, Devinsky O, Yuen R, Berg AT, Taati B, Fasano A, Andrade DM. Selvarajah A, et al. Among authors: huh l. Epilepsia. 2025 Jun;66(6):1975-1987. doi: 10.1111/epi.18329. Epub 2025 Mar 4. Epilepsia. 2025. PMID: 40034086 Free PMC article.
Early Clinical Variables Associated With Refractory Convulsive Status Epilepticus in Children.
Peariso K, Arya R, Glauser T, Abend NS, Barcia Aguilar C, Amengual-Gual M, Anderson A, Appavu BL, Brenton JN, Carpenter J, Chapman KE, Clark J, Gaillard WD, Gaínza-Lein M, Goldstein J, Goodkin H, Grinspan Z, Guerriero RM, Horn PS, Huh L, Kahoud R, Kelley SA, Kossoff EH, Kapur K, Lai YC, Marquis BO, McDonough T, Mikati MA, Morgan L, Novotny E, Ostendorf AP, Payne ET, Piantino J, Riviello J, Sands T, Stafstrom CE, Tasker RC, Tchapyjnikov D, Vasquez A, Wainwright MS, Wilfong A, Williams K, Loddenkemper T; for Pediatric Status Epilepticus Research Group (pSERG). Peariso K, et al. Among authors: huh l. Neurology. 2023 Aug 1;101(5):e546-e557. doi: 10.1212/WNL.0000000000207472. Epub 2023 Jun 9. Neurology. 2023. PMID: 37295955 Free PMC article.
Development and Adaptive Function in Individuals With SCN2A-Related Disorders.
Goad BS, Rodda J, Allen M, Bamborschke D, Overmars I, Kerr RJ, Bushlin I, Chopra S, Coorg R, Dabscheck G, Freeman JL, Mackay MT, Devinsky O, Guerrini R, Parrini E, Bölsterli B, Hughes I, Huh LL, Kamate M, Kunz AB, Melikishvili G, Miteff C, Myers KA, Olson HE, Poduri A, Pillai S, Riney CK, Sinclair A, Calvert S, Reynolds TQ, Martinez AR, Russo A, Sadleir LG, Sanchez-Albisua I, Sartori S, Shea S, Smith-Hicks CL, Spooner CG, Thomas RH, Ardern-Holmes SL, Webster RI, Valeriani M, Veggiotti P, Masnada S, Ware TL, Yoong M, Berecki G, De Dominicis A, Specchio N, Trivisano M, Møller RS, Wolff M, Fazeli W, Scheffer I, Howell KB. Goad BS, et al. Among authors: huh ll. Neurology. 2025 Aug 12;105(3):e213868. doi: 10.1212/WNL.0000000000213868. Epub 2025 Jul 22. Neurology. 2025. PMID: 40694750
MBOAT7 encephalopathy: Characterizing the neurology and epileptology.
De la Rosa SO, Rizzo V, Jauss RT, Bartolomaeus T, Escolar M, Bernard G, Gavrilova R, Ahrens-Nicklas R, Lemire G, Boycott KM, Mercimek-Andrews S, Prontera P, Costa C, Rakic B, Boerkoel CF, Huynh S, Huh L, Sherr E, Argilli E, Ortigoza-Escobar JD, Casas-Alba D, Nunes T, Koolen DA, Platzer K, Khinchi MS, Gardella E, Fenger CD, Møller RS, Bayat A. De la Rosa SO, et al. Among authors: huh l. Epilepsia. 2025 Jul;66(7):2379-2390. doi: 10.1111/epi.18376. Epub 2025 Mar 21. Epilepsia. 2025. PMID: 40116760 Free PMC article.
Expanding the genotype-phenotype spectrum in SCN8A-related disorders.
Hebbar M, Al-Taweel N, Gill I, Boelman C, Dean RA, Goodchild SJ, Mezeyova J, Shuart NG, Johnson JP, Lee J, Michoulas A, Huh LL, Armstrong L, Connolly MB, Demos MK. Hebbar M, et al. Among authors: huh ll. Res Sq [Preprint]. 2023 Aug 8:rs.3.rs-3221902. doi: 10.21203/rs.3.rs-3221902/v1. Res Sq. 2023. Update in: BMC Neurol. 2024 Jan 17;24(1):31. doi: 10.1186/s12883-023-03478-y. PMID: 37609289 Free PMC article. Updated. Preprint.
Expanding the genotype-phenotype spectrum in SCN8A-related disorders.
Hebbar M, Al-Taweel N, Gill I, Boelman C, Dean RA, Goodchild SJ, Mezeyova J, Shuart NG, Johnson JP Jr, Lee J, Michoulas A, Huh LL, Armstrong L, Connolly MB, Demos MK. Hebbar M, et al. Among authors: huh ll. BMC Neurol. 2024 Jan 17;24(1):31. doi: 10.1186/s12883-023-03478-y. BMC Neurol. 2024. PMID: 38233770 Free PMC article.
Three consecutive epilepsy syndromes in one child.
Kim MJ, Huh L, Datta AN. Kim MJ, et al. Among authors: huh l. Epileptic Disord. 2023 Feb;25(1):114-116. doi: 10.1002/epd2.20051. Epub 2023 Apr 17. Epileptic Disord. 2023. PMID: 36946357 No abstract available.
49 results