Grisar, Thierry ; Université de Liège > Département des sciences biomédicales et précliniques > Département des sciences biomédicales et précliniques
Stern, JM
Yamakawa ✱
Lakaye, Bernard ✱; Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Biochimie et physiologie humaine et pathologique
Camfield CS, Striano P, Camfield PR. Epidemiology of juvenile myoclonic epilepsy. Epilepsy Behav 2013;28:Suppl 1:S15-S17.
Hauser WA, Hesdorffer DC. Epilepsy: frequency, causes and consequences. New York: Demos Medical, 1990.
Fisher RS, Cross JH, French JA, et al. Operational classification of seizure types by the International League Against Epilepsy: position paper of the ILAE Commission for Classification and Terminology. Epilepsia 2017;58:522-30.
Martinez-Juárez IE, Alonso ME, Medina MT, et al. Juvenile myoclonic epilepsy subsyndromes: family studies and long-term follow-up. Brain 2006;129:1269-80.
Neligan A, Hauser WA, Sander JW. The epidemiology of the epilepsies. Handb Clin Neurol 2012;107:113-33.
Crespel A, Gelisse P, Reed RC, et al. Management of juvenile myoclonic epilepsy. Epilepsy Behav 2013;28:Suppl 1:S81-S86.
Yoon D, Frick KD, Carr DA, Austin JK. Economic impact of epilepsy in the United States. Epilepsia 2009;50:2186-91.
Meencke HJ, Veith G. The relevance of slight migrational disturbances (microdysgenesis) to the etiology of the epilepsies. Adv Neurol 1999;79:123-31.
Bailey JN, Patterson C, de Nijs L, et al. EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality. Genet Med 2017;19:144-56.
Fu Z, Schroeder MJ, Shabanowitz J, et al. Activation of a nuclear Cdc2-related kinase within a mitogen-activated protein kinase-like TDY motif by autophosphory-lation and cyclin-dependent protein kinase-activating kinase. Mol Cell Biol 2005;25: 6047-64.
MacArthur DG, Balasubramanian S, Frankish A, et al. A systematic survey of loss-of-function variants in human protein-coding genes. Science 2012;335:823-8.
Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A 1977; 74:5463-7.
Fredericks S, Moreton M, MacPhee IA, et al. Genotyping cytochrome P450 3A5 using the Light Cycler. Ann Clin Biochem 2005;42:376-81.
Lundberg DS, Yourstone S, Mieczkow-ski P, Jones CD, Dangl JL. Practical innovations for high-throughput amplicon sequencing. Nat Methods 2013;10:999-1002.
MacArthur DG, Manolio TA, Dim-mock DP, et al. Guidelines for investigating causality of sequence variants in human disease. Nature 2014;508:469-76.
Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405-24.
Thompson D, Easton DF, Goldgar DE. A full-likelihood method for the evaluation of causality of sequence variants from family data. Am J Hum Genet 2003;73: 652-5.
Mehrotra DV, Chan IS, Berger RL. A cautionary note on exact unconditional inference for a difference between two independent binomial proportions. Biometrics 2003;59:441-50.
The 1000 Genomes Project Consortium. A global reference for human genetic variation. Nature 2015;526:68-74.
Lek M, Karczewski KJ, Minikel EV, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature 2016; 536:285-91.
NHLBI GO Exome Sequencing Project (ESP). Seattle: Exome Variant Server (http://evs.gs.washington.edu/EVS/).
Liu X, Wu C, Li C, Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice-site SNVs. Hum Mutat 2016;37:235-41.
Glusman G, Caballero J, Mauldin DE, Hood L, Roach JC. Kaviar: an accessible system for testing SNV novelty. Bioinfor-matics 2011;27:3216-7.
McCarthy S, Das S, Kretzschmar W, et al. A reference panel of 64,976 haplotypes for genotype imputation. Nat Genet 2016; 48:1279-83.
de Nijs L, Wolkoff N, Coumans B, Delgado-Escueta AV, Grisar T, Lakaye B. Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development. Hum Mol Genet 2012;21:5106-17.
Komatsu H, Ogli K. Opisthotonus during exposure to isoflurane, enflurane, and halothane in mice. Anesthesiology 1987; 67:771-4.
Lander E, Kruglyak L. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet 1995;11:241-7.
Lindner TH, Hoffmann K. easyLINK-AGE: A PERL script for easy and automated two-/multi-point linkage analyses. Bio-informatics 2005;21:405-7.
Sobel E, Sengul H, Weeks DE. Multi-point estimation of identity-by-descent probabilities at arbitrary positions among marker loci on general pedigrees. Hum Hered 2001;52:121-31.
McKenna A, Hanna M, Banks E, et al. The Genome Analysis Toolkit: a Map-Reduce framework for analyzing next-generation DNA sequencing data. Genome Res 2010;20:1297-303.
Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 2010; 38(16):e164.
Fu Z, Kim J, Vidrich A, Sturgill TW, Cohn SM. Intestinal cell kinase, a MAP kinase-related kinase, regulates proliferation and G1 cell cycle progression of intestinal epithelial cells. Am J Physiol Gastrointest Liver Physiol 2009;297:G632-G640.
Wu D, Chapman JR, Wang L, et al. Intestinal cell kinase (ICK) promotes activation of mTOR complex 1 (mTORC1) through phosphorylation of Raptor Thr-908. J Biol Chem 2012;287:12510-9.
Lahiry P, Wang J, Robinson JF, et al. A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems. Am J Hum Genet 2009;84:134-47.
Desmots F, Russell HR, Lee Y, Boyd K, McKinnon PJ. The reaper-binding protein Scythe modulates apoptosis and proliferation during mammalian development. Mol Cell Biol 2005;25:10329-37.
Moon H, Song J, Shin JO, et al. Intestinal cell kinase, a protein associated with endocrine-cerebro-osteodysplasia syndrome, is a key regulator of cilia length and Hedgehog signaling. Proc Natl Acad Sci U S A 2014;111:8541-6.
Chaya T, Omori Y, Kuwahara R, Furu-kawa T. ICK is essential for cell type-specific ciliogenesis and the regulation of ciliary transport. EMBO J 2014;33:1227-42.
Berger I, Dor T, Halvardson J, et al. Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene. Epilepsia 2012;53:1436-40.