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Brain, ISSN 0006-8950, 02/2019, Volume 142, Issue 2, pp. 376 - 390
Mutations in the voltage-gated Na+ channel gene SCN8A can cause epileptic encephalopathies or intellectual disability without epilepsy. Liu et al. report... 
epilepsy | INACTIVATION GATE | OF-FUNCTION | NEUROSCIENCES | CLINICAL NEUROLOGY | ENCEPHALOPATHY | MYOTONIA | genetics | HYPEREXCITABILITY | SEIZURES | DE-NOVO MUTATIONS | SCN8A | MOUSE MODEL | computational modelling | ION CHANNELS | SODIUM-CHANNEL SCN8A | intellectual disability
Journal Article
Journal Article
Epilepsia, ISSN 0013-9580, 07/2016, Volume 57, Issue 7, pp. 1027 - 1035
Journal Article
Journal Article
Epilepsia, ISSN 0013-9580, 05/2019, Volume 60, Issue 5, pp. 830 - 844
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 05/2015, Volume 52, Issue 5, pp. 330 - 337
Journal Article
Seizure: European Journal of Epilepsy, ISSN 1059-1311, 02/2019, Volume 65, pp. 129 - 130
Journal Article
NEUROBIOLOGY OF DISEASE, ISSN 0969-9961, 08/2014, Volume 68, pp. 16 - 25
SCN1A mutations are the main cause of the epilepsy disorders Dravet syndrome (DS) and genetic epilepsy with febrile seizures plus (GEFS+). Mutations that... 
MODIFIER | PROTEIN | NULL | Scn8a | GEFS | MODEL | Lentivirus | NEUROSCIENCES | Scn1a | Cre recombinase | Voltage-gated sodium channel | GENE | Nav1.1 | Dravet syndrome | MUTATION | SEVERE MYOCLONIC EPILEPSY | Na(v)1.6 | SODIUM-CHANNEL SCN8A | BRAIN
Journal Article
Epilepsy Research, ISSN 0920-1211, 07/2018, Volume 143, pp. 79 - 81
-related epilepsies are often severe developmental and epileptic encephalopathies. Seizures can be treatment resistant, and patients suffer from severe... 
SUDEP | Epilepsy | SCN8A | Mortality | ENCEPHALOPATHY | SCN8A MUTATION | CLINICAL NEUROLOGY | Death, Sudden - epidemiology | Humans | Child, Preschool | Infant | Male | Risk | Epilepsy - mortality | Adolescent | Epilepsy - genetics | Female | NAV1.6 Voltage-Gated Sodium Channel - genetics | Child | Cohort Studies | Disease susceptibility | Health aspects
Journal Article
Epilepsy Research, ISSN 0920-1211, 08/2019, Volume 154, pp. 55 - 61
This study aimed to identify monogenic mutations from Chinese patients with childhood absence epilepsy (CAE) and summarize their characteristics. A total of... 
Childhood absence epilepsy | CLCN2 | SCN8A | SCN1A | Genetic research | Anopheles | Disease susceptibility | Genetic aspects | Gene mutations | Epilepsy
Journal Article
European journal of medical genetics, ISSN 1769-7212, 10/2018, p. 103565
Hereditary hemorrhagic telangiectasia is usually linked to the presence of a pathogenic mutation ACVRL1 or ENG. Thus, apparently there is no benefit to perform... 
Journal Article
Neuropharmacology, ISSN 0028-3908, 11/2019, Volume 158, p. 107699
epileptic encephalopathy is a severe genetic epilepsy syndrome caused by gain-of-function mutations of encoding the voltage-gated sodium (Na) channel (VGSC) Na... 
Sodium channels | Epileptic encephalopathy | Resurgent sodium current | SCN8A | action potentials | Persistent sodium current | Subiculum | Prax330
Journal Article
by McRae, Jeremy F and Clayton, Stephen and Fitzgerald, Tomas W and Kaplanis, Joanna and Prigmore, Elena and Rajan, Diana and Sifrim, Alejandro and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Ambridge, Kirsty and Barrett, Daniel M and Bayzetinova, Tanya and Jones, Philip and Jones, Wendy D and King, Daniel and Krishnappa, Netravathi and Mason, Laura E and Singh, Tarjinder and Tivey, Adrian R and Ahmed, Munaza and Anjum, Uruj and Archer, Hayley and Armstrong, Ruth and Awada, Jana and Balasubramanian, Meena and Banka, Siddharth and Baralle, Diana and Barnicoat, Angela and Batstone, Paul and Baty, David and Bennett, Chris and Berg, Jonathan and Bernhard, Birgitta and Bevan, A. Paul and Bitner-Glindzicz, Maria and Blair, Edward and Blyth, Moira and Bohanna, David and Bourdon, Louise and Bourn, David and Bradley, Lisa and Brady, Angela and Brent, Simon and Brewer, Carole and Brunstrom, Kate and Bunyan, David J and Burn, John and Canham, Natalie and Castle, Bruce and Chandler, Kate and Chatzimichali, Elena and Cilliers, Deirdre and Clarke, Angus and Clasper, Susan and Clayton-Smith, Jill and Clowes, Virginia and Coates, Andrea and Cole, Trevor and Colgiu, Irina and Collins, Amanda and Collinson, Morag N and Connell, Fiona and Cooper, Nicola and Cox, Helen and Cresswell, Lara and Cross, Gareth and Crow, Yanick and D'Alessandro, Mariella and Dabir, Tabib and Davidson, Rosemarie and Davies, Sally and De Vries, Dylan and Dean, John and Deshpande, Charu and Devlin, Gemma and Dixit, Abhijit and Dobbie, Angus and Donaldson, Alan and Donnai, Dian and Donnelly, Deirdre and Donnelly, Carina and Douglas, Angela and Douzgou, Sofia and Duncan, Alexis and Eason, Jacqueline and Ellard, Sian and Ellis, Ian and Elmslie, Frances and Evans, Karenza and Everest, Sarah and Fendick, Tina and Fisher, Richard and Flinter, Frances and Foulds, Nicola and Fry, Andrew and Fryer, Alan and Gardiner, Carol and Gaunt, Lorraine and Ghali, Neeti and ... and Deciphering Developmental Disorders Study
Nature, ISSN 0028-0836, 02/2017, Volume 542, Issue 7642, pp. 433 - 438
The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important... 
INTELLECTUAL DISABILITY | METAANALYSIS | VARIANTS | GENETICS | HEART-DEFECTS | MULTIDISCIPLINARY SCIENCES | GENES | SEQUENCE | FRAMEWORK | DISCOVERY | GENOME | Prevalence | Humans | Middle Aged | Parents | Male | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | Developmental Disabilities - genetics | Casein Kinase II - genetics | Autoantigens - genetics | Young Adult | ras GTPase-Activating Proteins - genetics | Adult | Female | Child | CDC2 Protein Kinase - genetics | Histone-Lysine N-Methyltransferase - genetics | Repressor Proteins - genetics | Sex Characteristics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Nerve Tissue Proteins - genetics | Sequence Analysis, DNA | Homeodomain Proteins - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Phenotype | Myeloid-Lymphoid Leukemia Protein - genetics | Adolescent | Heredity - genetics | Protein Phosphatase 2C - genetics | Cohort Studies | Child development deviations | Genetic aspects | Genetic disorders | Developmental disabilities | Distribution | Genes | Families & family life | Births | Genomes | Mutation | Causality | Estimates | Age | TRIO | MYT1L | EHMT1 | HNRNPU | SUV420H1 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SCN1A | MEF2C | CDKL5 | CSNK2A1 | DYRK1A | CASK | ALG13 | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | PhenIcons | SET | KMT2A | ANKRD11 | STXBP1 | FOXG1 | ZC4H2 | ITPR1 | De novo mutation | Seizures | ZBTB18 | CREBBP | SMAD4 | PDHA1 | IQSEC2 | AUTS2 | BCL11A | BRAF | SMARCA2 | GRIN2B | MED13L | GNAO1 | CNOT3 | TCF4 | SCN2A | CDK13 | GABRB3 | SETD5 | KDM5B | Developmental Disease | DDX3X | CHD8 | PTEN | CHD4 | TCF20 | CTCF | CHD2 | WDR45 | SLC6A1 | MECP2 | CHAMP1 | KIF1A | Average Faces | MSL3 | PPP2R5D | SMC1A | ARID1B | DNM1 | CNKSR2 | PACS1 | WAC | ZMYND11 | AHDC1 | NFIX | SATB2 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | Intellectual Disability | SLC35A2 | DYNC1H1 | NAA10 | USP9X | PTPN11 | GATAD2B | ASXL1 | KANSL1 | ASXL3 | CTNNB1 | QRICH1
Journal Article