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Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.
Møller RS, Wuttke TV, Helbig I, Marini C, Johannesen KM, Brilstra EH, Vaher U, Borggraefe I, Talvik I, Talvik T, Kluger G, Francois LL, Lesca G, de Bellescize J, Blichfeldt S, Chatron N, Holert N, Jacobs J, Swinkels M, Betzler C, Syrbe S, Nikanorova M, Myers CT, Larsen LH, Vejzovic S, Pendziwiat M, von Spiczak S, Hopkins S, Dubbs H, Mang Y, Mukhin K, Holthausen H, van Gassen KL, Dahl HA, Tommerup N, Mefford HC, Rubboli G, Guerrini R, Lemke JR, Lerche H, Muhle H, Maljevic S. Møller RS, et al. Among authors: hopkins s. Neurology. 2017 Jan 31;88(5):483-492. doi: 10.1212/WNL.0000000000003565. Epub 2017 Jan 4. Neurology. 2017. PMID: 28053010 Free PMC article.
Defining the phenotypic spectrum of SLC6A1 mutations.
Johannesen KM, Gardella E, Linnankivi T, Courage C, de Saint Martin A, Lehesjoki AE, Mignot C, Afenjar A, Lesca G, Abi-Warde MT, Chelly J, Piton A, Merritt JL 2nd, Rodan LH, Tan WH, Bird LM, Nespeca M, Gleeson JG, Yoo Y, Choi M, Chae JH, Czapansky-Beilman D, Reichert SC, Pendziwiat M, Verhoeven JS, Schelhaas HJ, Devinsky O, Christensen J, Specchio N, Trivisano M, Weber YG, Nava C, Keren B, Doummar D, Schaefer E, Hopkins S, Dubbs H, Shaw JE, Pisani L, Myers CT, Tang S, Tang S, Pal DK, Millichap JJ, Carvill GL, Helbig KL, Mecarelli O, Striano P, Helbig I, Rubboli G, Mefford HC, Møller RS. Johannesen KM, et al. Among authors: hopkins s. Epilepsia. 2018 Feb;59(2):389-402. doi: 10.1111/epi.13986. Epub 2018 Jan 8. Epilepsia. 2018. PMID: 29315614 Free PMC article.
Auditory function in Pelizaeus-Merzbacher disease.
Morlet T, Nagao K, Bean SC, Mora SE, Hopkins SE, Hobson GM. Morlet T, et al. Among authors: hopkins se. J Neurol. 2018 Jul;265(7):1580-1589. doi: 10.1007/s00415-018-8884-x. Epub 2018 May 3. J Neurol. 2018. PMID: 29725841
Brain Magnetic Resonance Imaging Abnormalities in Acute Flaccid Myelitis.
Caceres JA, Saucier L, Murphy OC, Gordon-Lipkin EM, Santoro JD, Van Haren K, Pardo CA, Hopkins S. Caceres JA, et al. Among authors: hopkins s. Pediatr Neurol. 2023 Dec;149:56-62. doi: 10.1016/j.pediatrneurol.2023.08.021. Epub 2023 Aug 19. Pediatr Neurol. 2023. PMID: 37797356 Review.
An International Pediatric-Onset Opsoclonus-Myoclonus Ataxia Syndrome Registry and Clinical Research Network: Development, Progress, and Vision.
Kerr LM, Ryan ME, Lim M, Hearn S, Klein A, Deiva K, Hopkins SE, Bacchus MK, Sokol EA, Waanders AJ, Mitchell WG, Khakoo Y, Lotze TE, Zhang B, Gorman MP. Kerr LM, et al. Among authors: hopkins se. Pediatr Neurol. 2023 Nov;148:145-147. doi: 10.1016/j.pediatrneurol.2023.05.006. Epub 2023 May 16. Pediatr Neurol. 2023. PMID: 37716108 No abstract available.
1,330 results