Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures
暂无分享,去创建一个
S. Topp | M. Simpson | P. Fallon | Manuela Pendziwiat | R. Møller | Y. Weber | I. Helbig | H. Cross | M. Kinali | R. Guerrini | Anna B. Smith | D. Mei | T. Hedderly | D. Pal | A. Parker | E. Hughes | C. Marini | Sha Tang | S. Goyal | W. Whitehouse | C. Eltze | K. Lascelles | R. Robinson | T. Kerr | G. Vassallo | L. Addis | M. Absoud | Nahin Hussain | A. Desurkar | S. Agrawal | Ruth E. Williams | I. Bagnasco | Irene Bagnasco | A. Parker
[1] R. Nabbout,et al. Exome sequencing findings in 27 patients with myoclonic‐atonic epilepsy: Is there a major genetic factor? , 2019, Clinical genetics.
[2] Kenneth D. Mandl,et al. A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. , 2019, American journal of human genetics.
[3] J. Hentschel,et al. Parental mosaicism in epilepsies due to alleged de novo variants , 2019, Epilepsia.
[4] Charuta N. Joshi,et al. Diagnosis switching and outcomes in a cohort of patients with potential epilepsy with myoclonic-atonic seizures , 2018, Epilepsy Research.
[5] M. Daly,et al. De novo variants in neurodevelopmental disorders with epilepsy , 2018, Nature Genetics.
[6] Ethan M. Goldberg,et al. Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes , 2017, JAMA neurology.
[7] L. Lagae,et al. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders , 2017, Brain : a journal of neurology.
[8] Bradley P. Coe,et al. Targeted sequencing identifies 91 neurodevelopmental disorder risk genes with autism and developmental disability biases , 2017, Nature Genetics.
[9] C. Barba,et al. Diagnostic Targeted Resequencing in 349 Patients with Drug‐Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes , 2017, Human mutation.
[10] Ingo Borggraefe,et al. Mutations in GABRB3: From febrile seizures to epileptic encephalopathies , 2017, Neurology.
[11] L. Villard. Faculty Opinions recommendation of Mutations in GABRB3: From febrile seizures to epileptic encephalopathies. , 2017 .
[12] J. Rosenfeld,et al. De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms. , 2016, American journal of human genetics.
[13] M. Simpson,et al. New SMARCA2 mutation in a patient with Nicolaides–Baraitser syndrome and myoclonic astatic epilepsy , 2016, American journal of medical genetics. Part A.
[14] J. Rosenfeld,et al. TBC1D24 genotype–phenotype correlation , 2016, Neurology.
[15] Orrin Devinsky,et al. De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy , 2016, Journal of Medical Genetics.
[16] Sanxiong Liu,et al. Histone methyltransferase Ash1L mediates activity-dependent repression of neurexin-1α , 2016, Scientific Reports.
[17] H. Mefford,et al. Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy , 2016, Journal of Medical Genetics.
[18] Naomichi Matsumoto,et al. De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing , 2015, Scientific Reports.
[19] G. Carvill,et al. Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures. , 2015, American journal of human genetics.
[20] Maja Steinlin,et al. De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy , 2015, Nature Genetics.
[21] Tomas W. Fitzgerald,et al. Large-scale discovery of novel genetic causes of developmental disorders , 2014, Nature.
[22] J. Roach,et al. Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes , 2014, Nature Genetics.
[23] Soyong Eom,et al. Routine developmental, autism, behavioral, and psychological screening in epilepsy care settings , 2014, Developmental medicine and child neurology.
[24] Christopher S. Poultney,et al. Synaptic, transcriptional, and chromatin genes disrupted in autism , 2014, Nature.
[25] Edouard Henrion,et al. De Novo Mutations in Moderate or Severe Intellectual Disability , 2014, PLoS genetics.
[26] T. Fujita,et al. Early onset and focal spike discharges as indicators of poor prognosis for myoclonic-astatic epilepsy , 2014, Brain and Development.
[27] Holger Lerche,et al. De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. , 2013, American journal of human genetics.
[28] Michael R. Johnson,et al. De novo mutations in the classic epileptic encephalopathies , 2013, Nature.
[29] J. Shendure,et al. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 , 2013, Nature Genetics.
[30] H. Arroyo,et al. Epilepsy with myoclonic atonic seizures: an electroclinical study of 69 patients. , 2013, Pediatric neurology.
[31] B. V. van Bon,et al. Diagnostic exome sequencing in persons with severe intellectual disability. , 2012, The New England journal of medicine.
[32] D. Horn,et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study , 2012, The Lancet.
[33] Evan T. Geller,et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders , 2012, Nature.
[34] Michael F. Walker,et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism , 2012, Nature.
[35] Bradley P. Coe,et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations , 2012, Nature.
[36] I. Scheffer,et al. Rare copy number variants are an important cause of epileptic encephalopathies , 2011, Annals of neurology.
[37] F. Vigevano,et al. Myoclonic astatic epilepsy: An age-dependent epileptic syndrome with favorable seizure outcome but variable cognitive evolution , 2011, Epilepsy Research.
[38] Kate M. Lawrence,et al. Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. , 2011, Archives of neurology.
[39] Ulrich Stephani,et al. Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies , 2010, PLoS genetics.
[40] J. H. Cross,et al. Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005–2009 , 2010, Epilepsia.
[41] A. Bergqvist,et al. Current Treatment of Myoclonic Astatic Epilepsy: Clinical Experience at the Children's Hospital of Philadelphia , 2007, Epilepsia.
[42] A. Brice,et al. Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy , 2003, Epilepsy Research.
[43] H. Meltzer,et al. Mental health of children and adolescents in Great Britain , 2003, International review of psychiatry.
[44] M. Funatsuka,et al. Treatment and Long-Term Prognosis of Myoclonic-Astatic Epilepsy of Early Childhood , 2002, Neuropediatrics.
[45] M. Funatsuka,et al. Myoclonic–astatic epilepsy of early childhood – clinical and EEG analysis of myoclonic–astatic seizures, and discussions on the nosology of the syndrome , 2001, Brain and Development.
[46] A. Heils,et al. A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy. , 2001, American journal of human genetics.
[47] G. Dellatolas,et al. Delineation of cryptogenic Lennox–Gastaut syndrome and myoclonic astatic epilepsy using multiple correspondence analysis , 1999, Epilepsy Research.
[48] Samuel F. Berkovic,et al. Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel ß1 subunit gene SCN1B , 1998, Nature Genetics.
[49] T. Kurashige,et al. Proposal for Revised Classification of Epilepsies and Epileptic Syndromes , 1989, No to hattatsu = Brain and development.
[50] H. Doose,et al. Centrencephalic Myoclonic-Astatic Petit Mal1 – Clinical and genetic investigations , 1970, Neuropadiatrie.
[51] M. Wolff,et al. Behavioural and developmental aspects of primary generalized myoclonic-astatic epilepsy. , 1992, Epilepsy research. Supplement.