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Page 1
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.
Datta AN, Bahi-Buisson N, Bienvenu T, Buerki SE, Gardiner F, Cross JH, Heron B, Kaminska A, Korff CM, Lepine A, Lesca G, McTague A, Mefford HC, Mignot C, Milh M, Piton A, Pressler RM, Ruf S, Sadleir LG, de Saint Martin A, Van Gassen K, Verbeek NE, Ville D, Villeneuve N, Zacher P, Scheffer IE, Lemke JR. Datta AN, et al. Epilepsia. 2021 Feb;62(2):325-334. doi: 10.1111/epi.16761. Epub 2021 Jan 7. Epilepsia. 2021. PMID: 33410528 Free PMC article.
Transcriptome analysis of a ring chromosome 20 patient cohort.
Myers KA, Bennett MF, Hildebrand MS, Coleman MJ, Zhou G, Hollingsworth G, Cairns A, Riney K, Berkovic SF, Bahlo M, Scheffer IE. Myers KA, et al. Epilepsia. 2021 Jan;62(1):e22-e28. doi: 10.1111/epi.16766. Epub 2020 Nov 18. Epilepsia. 2021. PMID: 33207017
The ENIGMA-Epilepsy working group: Mapping disease from large data sets.
Sisodiya SM, Whelan CD, Hatton SN, Huynh K, Altmann A, Ryten M, Vezzani A, Caligiuri ME, Labate A, Gambardella A, Ives-Deliperi V, Meletti S, Munsell BC, Bonilha L, Tondelli M, Rebsamen M, Rummel C, Vaudano AE, Wiest R, Balachandra AR, Bargalló N, Bartolini E, Bernasconi A, Bernasconi N, Bernhardt B, Caldairou B, Carr SJA, Cavalleri GL, Cendes F, Concha L, Desmond PM, Domin M, Duncan JS, Focke NK, Guerrini R, Hamandi K, Jackson GD, Jahanshad N, Kälviäinen R, Keller SS, Kochunov P, Kowalczyk MA, Kreilkamp BAK, Kwan P, Lariviere S, Lenge M, Lopez SM, Martin P, Mascalchi M, Moreira JCV, Morita-Sherman ME, Pardoe HR, Pariente JC, Raviteja K, Rocha CS, Rodríguez-Cruces R, Seeck M, Semmelroch MKHG, Sinclair B, Soltanian-Zadeh H, Stein DJ, Striano P, Taylor PN, Thomas RH, Thomopoulos SI, Velakoulis D, Vivash L, Weber B, Yasuda CL, Zhang J, Thompson PM, McDonald CR; ENIGMA Consortium Epilepsy Working Group. Sisodiya SM, et al. Hum Brain Mapp. 2020 May 29;43(1):113-28. doi: 10.1002/hbm.25037. Online ahead of print. Hum Brain Mapp. 2020. PMID: 32468614 Free PMC article. Review.
SCN1A Variants in vaccine-related febrile seizures: A prospective study.
Damiano JA, Deng L, Li W, Burgess R, Schneider AL, Crawford NW, Buttery J, Gold M, Richmond P, Macartney KK, Hildebrand MS, Scheffer IE, Wood N, Berkovic SF. Damiano JA, et al. Ann Neurol. 2020 Feb;87(2):281-288. doi: 10.1002/ana.25650. Epub 2019 Dec 12. Ann Neurol. 2020. PMID: 31755124
The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.
Burgess R, Wang S, McTague A, Boysen KE, Yang X, Zeng Q, Myers KA, Rochtus A, Trivisano M, Gill D; EIMFS Consortium; Sadleir LG, Specchio N, Guerrini R, Marini C, Zhang YH, Mefford HC, Kurian MA, Poduri AH, Scheffer IE. Burgess R, et al. Ann Neurol. 2019 Dec;86(6):821-831. doi: 10.1002/ana.25619. Ann Neurol. 2019. PMID: 31618474 Free PMC article.
Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations.
Cameron JM, Maljevic S, Nair U, Aung YH, Cogné B, Bézieau S, Blair E, Isidor B, Zweier C, Reis A, Koenig MK, Maarup T, Sarco D, Afenjar A, Huq AHMM, Kukolich M, Billette de Villemeur T, Nava C, Héron B, Petrou S, Berkovic SF. Cameron JM, et al. Ann Clin Transl Neurol. 2019 Jul;6(7):1263-1272. doi: 10.1002/acn3.50822. Epub 2019 Jul 1. Ann Clin Transl Neurol. 2019. PMID: 31353855 Free PMC article.