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index medicus (70) 70
stxbp1 (60) 60
humans (56) 56
epilepsy (47) 47
clinical neurology (40) 40
stxbp1 mutations (38) 38
munc18 proteins - genetics (32) 32
mutation (32) 32
female (31) 31
male (31) 31
genetic aspects (27) 27
encephalopathy (26) 26
infant (26) 26
spasms, infantile - genetics (24) 24
ohtahara syndrome (21) 21
seizures (21) 21
electroencephalography (20) 20
genetics & heredity (20) 20
phenotype (20) 20
epilepsy - genetics (19) 19
neurosciences (19) 19
animals (17) 17
de-novo mutations (17) 17
genes (17) 17
pediatrics (17) 17
child (16) 16
epileptic encephalopathy (16) 16
infantile epileptic encephalopathy (14) 14
intellectual disability (14) 14
analysis (13) 13
brain - physiopathology (13) 13
child, preschool (13) 13
infant, newborn (13) 13
infantile spasms (12) 12
neurology (12) 12
gene mutations (11) 11
genetics (11) 11
ohtahara-syndrome (11) 11
article (10) 10
gene (10) 10
genetic research (10) 10
mutations (10) 10
research (10) 10
west syndrome (10) 10
age (9) 9
mental-retardation (9) 9
munc18 proteins - metabolism (9) 9
munc18-1 (9) 9
mutation - genetics (9) 9
proteins (9) 9
sptan1 (9) 9
west-syndrome (9) 9
cdkl5 (8) 8
early myoclonic encephalopathy (8) 8
exocytosis (8) 8
protein binding (8) 8
spasms, infantile - diagnosis (8) 8
spasms, infantile - physiopathology (8) 8
adolescent (7) 7
adult (7) 7
brain diseases - genetics (7) 7
carrier proteins - genetics (7) 7
cerebral hypomyelination (7) 7
eeg (7) 7
magnetic resonance imaging (7) 7
mecp2 (7) 7
medical colleges (7) 7
syntaxin (7) 7
young adult (7) 7
alpha-ii-spectrin (6) 6
anticonvulsants - therapeutic use (6) 6
brain (6) 6
clinical spectrum (6) 6
mental illness (6) 6
microfilament proteins - genetics (6) 6
mutation, missense (6) 6
nerve tissue proteins - genetics (6) 6
polyalanine expansion (6) 6
spectrum (6) 6
suppression-burst (6) 6
age of onset (5) 5
brain - pathology (5) 5
cell line (5) 5
cohort studies (5) 5
deletion (5) 5
developmental disabilities - genetics (5) 5
early-onset epileptic encephalopathy (5) 5
epilepsy - diagnosis (5) 5
epilepsy - physiopathology (5) 5
exome - genetics (5) 5
gene expression (5) 5
genetic screening (5) 5
genotype (5) 5
haploinsufficiency (5) 5
intellectual disability - genetics (5) 5
membrane-fusion (5) 5
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1. Full Text Munc 18-1 is a molecular chaperone for alpha-synuclein, controlling its self-replicating aggregation
by Chai, YJ and Sierecki, E and Tomatis, VM and Gormal, RS and Giles, N and Morrow, IC and Xia, D and Gotz, J and Parton, RG and Collins, BM and Gambin, Y and Meunier, FA
JOURNAL OF CELL BIOLOGY, ISSN 0021-9525, 09/2016, Volume 214, Issue 6, pp. 705 - 718
Munc 18-1 is a key component of the exocytic machinery that controls neurotransmitter release. Munc 18-1 heterozygous mutations cause developmental defects and... 
ENCEPHALOPATHY | COMPLEX | DEMENTIA | EXOCYTOSIS | PROTEIN EXPRESSION | SUPPRESSION | BINDING | STXBP1 MUTATIONS | BRAIN | PARKINSONS-DISEASE | CELL BIOLOGY
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2. Full Text De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies
by Appenzeller, Silke and Balling, Rudi and Barisic, Nina and Baulac, Stéphanie and Caglayan, Hande and Craiu, Dana and De Jonghe, Peter and Depienne, Christel and Dimova, Petia and Djémié, Tania and Gormley, Padhraig and Guerrini, Renzo and Helbig, Ingo and Hjalgrim, Helle and Hoffman-Zacharska, Dorota and Jähn, Johanna and Klein, Karl Martin and Koeleman, Bobby and Komarek, Vladimir and Krause, Roland and Kuhlenbäumer, Gregor and Leguern, Eric and Lehesjoki, Anna-Elina and Lemke, Johannes R and Lerche, Holger and Linnankivi, Tarja and Marini, Carla and May, Patrick and Møller, Rikke S and Muhle, Hiltrud and Pal, Deb and Palotie, Aarno and Pendziwiat, Manuela and Robbiano, Angela and Roelens, Filip and Rosenow, Felix and Selmer, Kaja and Serratosa, Jose M and Sisodiya, Sanjay and Stephani, Ulrich and Sterbova, Katalin and Striano, Pasquale and Suls, Arvid and Talvik, Tiina and von Spiczak, Sarah and Weber, Yvonne and Weckhuysen, Sarah and Zara, Federico and Abou-Khalil, Bassel and Alldredge, Brian K and Andermann, Eva and Andermann, Frederick and Amron, Dina and Bautista, Jocelyn F and Berkovic, Samuel F and Bluvstein, Judith and Boro, Alex and Cascino, Gregory and Consalvo, Damian and Crumrine, Patricia and Devinsky, Orrin and Dlugos, Dennis and Epstein, Michael P and Fiol, Miguel and Fountain, Nathan B and French, Jacqueline and Friedman, Daniel and Geller, Eric B and Glauser, Tracy and Glynn, Simon and Haas, Kevin and Haut, Sheryl R and Hayward, Jean and Helmers, Sandra L and Joshi, Sucheta and Kanner, Andres and Kirsch, Heidi E and Knowlton, Robert C and Kossoff, Eric H and Kuperman, Rachel and Kuzniecky, Ruben and Lowenstein, Daniel H and McGuire, Shannon M and Motika, Paul V and Novotny, Edward J and Ottman, Ruth and Paolicchi, Juliann M and Parent, Jack and Park, Kristen and Poduri, Annapurna and Sadleir, Lynette and Scheffer, Ingrid E and Shellhaas, Renée A and Sherr, Elliott and Shih, Jerry J and Singh, Rani and Sirven, Joseph and Smith, Michael C and Sullivan, Joe and Thio, Liu Lin and ... and Epi4K Consortium and EuroEPINOMICS-RES Consortium and Epilepsy Phenome Genome Project and Epilepsy Phenome/Genome Project
The American Journal of Human Genetics, ISSN 0002-9297, 10/2014, Volume 95, Issue 4, pp. 360 - 370
Emerging evidence indicates that epileptic encephalopathies are genetically highly heterogeneous, underscoring the need for large cohorts of well-characterized... 
INTELLECTUAL DISABILITY | GRIN2A MUTATIONS | PROTEIN | STXBP1 | EPILEPSIES | GENETICS & HEREDITY | DYNAMIN-1 | SCHIZOPHRENIA | PATTERNS | APHASIA | Fatty Acid Synthase, Type I - genetics | Receptors, GABA-B - genetics | Synaptic Transmission - genetics | Humans | Male | Spasms, Infantile - genetics | Gene Regulatory Networks | Mutation - genetics | Dynamin I - genetics | Lennox Gastaut Syndrome - genetics | Protein Interaction Maps | Exome - genetics | Ryanodine Receptor Calcium Release Channel - genetics | Female | Infant, Newborn | Cohort Studies | Genetic research | Genetic aspects | Research | Gene mutations | Epilepsy
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3. Full Text STXBP1‐related encephalopathy presenting as infantile spasms and generalized tremor in three patients
by Mignot, Cyril and Moutard, Marie‐Laure and Trouillard, Oriane and Gourfinkel‐An, Isabelle and Jacquette, Aurélia and Arveiler, Benoit and Morice‐Picard, Fanny and Lacombe, Didier and Chiron, Catherine and Ville, Dorothée and Charles, Perrine and LeGuern, Eric and Depienne, Christel and Héron, Delphine
Epilepsia, ISSN 0013-9580, 10/2011, Volume 52, Issue 10, pp. 1820 - 1827
Summary Purpose:  Dominant mutations in the STXBP1 gene are a recently identified cause of infantile epileptic encephalopathy without metabolic and structural... 
Epileptic encephalopathy | Infantile spasms | Tremor | STXBP1 | Haploinsufficiency | CDKL5 MUTATIONS | SPECTRUM | OF-THE-LITERATURE | STXBP1 MUTATIONS | CLINICAL NEUROLOGY | FEATURES | Munc18 Proteins - genetics | Spasms, Infantile - physiopathology | Oligonucleotide Array Sequence Analysis | Brain - physiopathology | Humans | Anticonvulsants - therapeutic use | Infant | Electroencephalography | Tremor - complications | Spasms, Infantile - genetics | Tremor - physiopathology | Mutagenesis, Insertional - genetics | Spasms, Infantile - drug therapy | Tremor - genetics | Polymorphism, Single Nucleotide - genetics | Female | Heterozygote | Spasms, Infantile - complications | Codon | Encephalopathy | Epilepsy | Genes | Cytogenetics | Seizures (Medicine) | Diagnosis | Convulsions & seizures | Nuclear magnetic resonance--NMR | Mutation | Patients | Neuroimaging | Brain | tremor | Nonsense mutation | Insertion | Infants | Antiepileptic agents | Gene deletion | Magnetic resonance imaging | genomics | Seizures
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4. Full Text Prevalence and architecture of de novo mutations in developmental disorders
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
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5. Full Text STXBP1-associated neurodevelopmental disorder: a comparative study of behavioural characteristics
by O'Brien, S and Ng-Cordell, E and Astle, DE and Scerif, G and Baker, K and DDD Study and The DDD Study
JOURNAL OF NEURODEVELOPMENTAL DISORDERS, ISSN 1866-1947, 08/2019, Volume 11, Issue 1, pp. 17 - 11
Background De novo loss of function mutations in STXBP1 are a relatively common cause of epilepsy and intellectual disability (ID). However, little is known... 
Social | STXBP1 | Epilepsy | PHENOTYPE | MODEL | NEUROSCIENCES | STXBP1 MUTATIONS | CLINICAL NEUROLOGY | FEATURES | ENCEPHALOPATHY | Intellectual disability | Language | DE-NOVO MUTATIONS | Care and treatment | Usage | Causes of | Genetic aspects | Mental retardation | Genetic screening
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6. Full Text A novel de novo STXBP1 mutation causes mitochondrial complex I deficiency and late onset juvenile onset parkinsonism
by Keogh, MJ and Daud, D and Pyle, A and Steele, H and Duff, J and Griffin, H and Taggart, S and Basu, AP and Taylor, R and Horvath, R and Ramesh, V and Chinnery, PF
Neurogenetics, ISSN 1364-6745, 1/2015, Volume 16, Issue 1, pp. 65 - 67
Parkinsonism | Otahara | Mitochondria | Complex I | STXBP1
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7. Full Text Clinical spectrum of STX1B-related epileptic disorders
by Wolking, Stefan and May, Patrick and Mei, Davide and Møller, Rikke S and Balestrini, Simona and Helbig, Katherine L and Altuzarra, Cecilia Desmettre and Chatron, Nicolas and Kaiwar, Charu and Stöhr, Katharina and Widdess-Walsh, Peter and Mendelsohn, Bryce A and Numis, Adam and Cilio, Maria R and Van Paesschen, Wim and Svendsen, Lene L and Oates, Stephanie and Hughes, Elaine and Goyal, Sushma and Brown, Kathleen and Sifuentes Saenz, Margarita and Dorn, Thomas and Muhle, Hiltrud and Pagnamenta, Alistair T and Vavoulis, Dimitris V and Knight, Samantha J.L and Taylor, Jenny C and Canevini, Maria Paola and Darra, Francesca and Gavrilova, Ralitza H and Powis, Zöe and Tang, Shan and Marquetand, Justus and Armstrong, Martin and McHale, Duncan and Klee, Eric W and Kluger, Gerhard J and Lowenstein, Daniel H and Weckhuysen, Sarah and Pal, Deb K and Helbig, Ingo and Guerrini, Renzo and Thomas, Rhys H and Rees, Mark I and Lesca, Gaetan and Sisodiya, Sanjay M and Weber, Yvonne G and Lal, Dennis and Marini, Carla and Lerche, Holger and Schubert, Julian
Neurology, ISSN 0028-3878, 03/2019, Volume 92, Issue 11, pp. e1238 - e1249
OBJECTIVEThe aim of this study was to expand the spectrum of epilepsy syndromes related to STX1B, encoding the presynaptic protein syntaxin-1B, and establish... 
HETEROGENEITY | GENETIC-VARIATION | PROTEIN | FEBRILE SEIZURES PLUS | DE-NOVO MUTATIONS | STXBP1 | GENERALIZED EPILEPSY | SODIUM-CHANNEL | ONSET | CLINICAL NEUROLOGY | SCN1A
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8. Full Text Diagnostic yield of genetic testing in epileptic encephalopathy in childhood
by Mercimek‐Mahmutoglu, Saadet and Patel, Jaina and Cordeiro, Dawn and Hewson, Stacy and Callen, David and Donner, Elizabeth J and Hahn, Cecil D and Kannu, Peter and Kobayashi, Jeff and Minassian, Berge A and Moharir, Mahendranath and Siriwardena, Komudi and Weiss, Shelly K and Weksberg, Rosanna and Snead, O. Carter
Epilepsia, ISSN 0013-9580, 05/2015, Volume 56, Issue 5, pp. 707 - 716
Summary Objective Epilepsy is a common neurologic disorder of childhood. To determine the genetic diagnostic yield in epileptic encephalopathy, we performed a... 
Genetics | Molecular genetics | Epilepsy | Metabolic disorders | Chromosomal | CLINICAL SPECTRUM | PHENOTYPE | METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY | STXBP1 MUTATIONS | CLINICAL NEUROLOGY | FEATURES | SEIZURES | DE-NOVO MUTATIONS | MOLECULAR DIAGNOSIS | EPILEPSIES | REVEALS | Genetic Predisposition to Disease | Humans | Child, Preschool | Sodium-Hydrogen Exchangers | Infant | Male | Cognition Disorders - genetics | Developmental Disabilities - genetics | Spasms, Infantile - genetics | Mutation - genetics | Munc18 Proteins | Cognition Disorders - complications | KCNQ2 Potassium Channel | Adolescent | Cadherins | Female | Spasms, Infantile - complications | Spasms, Infantile - diagnosis | Developmental Disabilities - complications | Child | NAV1.2 Voltage-Gated Sodium Channel | Cohort Studies | Oxidases | Phosphates | Nervous system diseases | Encephalopathy | Cytogenetics | Diagnostic imaging | Diagnosis | Glucose | Glycine | Genetic screening | Dextrose | Mutation
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9. Full Text Molecular characterization of a cohort of 73 patients with infantile spasms syndrome
by Boutry-Kryza, Nadia and Labalme, Audrey and Ville, Dorothee and de Bellescize, Julitta and Touraine, Renaud and Prieur, Fabienne and Dimassi, Sarra and Poulat, Anne-Lise and Till, Marianne and Rossi, Massimiliano and Bourel-Ponchel, Emilie and Delignières, Aline and Le Moing, Anne-Gaelle and Rivier, Clotilde and des Portes, Vincent and Edery, Patrick and Calender, Alain and Sanlaville, Damien and Lesca, Gaetan
European Journal of Medical Genetics, ISSN 1769-7212, 2014, Volume 58, Issue 2, pp. 51 - 58
Abstract Infantile Spasms syndrome (ISs) is a characterized by epileptic spasms occurring in clusters with an onset in the first year of life. West syndrome... 
Medical Education | Infantile spasms syndrome | West syndrome | MEF2C | CDKL5 | SCN2A | STXBP1 | MICRODELETION | GRIN2A MUTATIONS | SEVERE MENTAL-RETARDATION | EPILEPTIC ENCEPHALOPATHIES | CLINICAL SPECTRUM | STXBP1 MUTATIONS | DELETION | DE-NOVO MUTATIONS | GENE | WEST-SYNDROME | GENETICS & HEREDITY | Calmodulin - genetics | Histone-Lysine N-Methyltransferase - genetics | MEF2 Transcription Factors - genetics | Munc18 Proteins - genetics | Humans | NAV1.2 Voltage-Gated Sodium Channel - genetics | Protein-Serine-Threonine Kinases - genetics | Child, Preschool | Endosomal Sorting Complexes Required for Transport - genetics | Male | Spasms, Infantile - genetics | Syndrome | DNA Copy Number Variations | Receptors, N-Methyl-D-Aspartate - genetics | Carrier Proteins - genetics | KCNQ2 Potassium Channel - genetics | Female | Nedd4 Ubiquitin Protein Ligases | Mutation | Ubiquitin-Protein Ligases - genetics | Child | Infant, Newborn | Genetics | Analysis | Genetic screening
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10. Full Text Impaired cortico-striatal excitatory transmission triggers epilepsy
by Miyamoto, H and Tatsukawa, T and Shimohata, A and Yamagata, T and Suzuki, T and Amano, K and Mazaki, E and Raveau, M and Ogiwara, I and Oba-Asaka, A and Hensch, TK and Itohara, S and Sakimura, K and Kobayashi, K and Yamakawa, K
NATURE COMMUNICATIONS, ISSN 2041-1723, 04/2019, Volume 10, Issue 1, pp. 1917 - 13
STXBP1 and SCN2A gene mutations are observed in patients with epilepsies, although the circuit basis remains elusive. Here, we show that mice with... 
DE-NOVO MUTATIONS | MULTIDISCIPLINARY SCIENCES | SYNAPTIC-TRANSMISSION | DORSAL STRIATUM | GENETIC MODEL | PROJECTION NEURONS | FAST-SPIKING INTERNEURONS | FEEDFORWARD INHIBITION | STXBP1 MUTATIONS | ABSENCE EPILEPSY | OHTAHARA-SYNDROME
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11. Full Text Características de las personas con el síndrome STXBP1 en España: implicaciones para el diagnóstico
by Murillo, Eva
Anales de Pediatría, ISSN 1695-4033, 2019
ResumenIntroducciónEl síndrome STXBP1 es una enfermedad genética que afecta a uno de los mecanismos reguladores de la liberación de neurotransmisores por parte... 
Pediatrics
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12. Full Text Nueva mutación en el gen STXBP1 en un paciente con síndrome de Ohtahara no lesional
by Ortega-Moreno, L and Giráldez, B.G and Verdú, A and García-Campos, O and Sánchez-Martín, G and Serratosa, J.M and Guerrero-López, R
Neurologia, ISSN 0213-4853, 10/2016, Volume 31, Issue 8, pp. 523 - 527
Introduction Ohtahara syndrome (OS, OMIM#308350, ORPHA1934) is an early-onset epileptic encephalopathy (EOEE) characterised by spasms, intractable seizures,... 
Early-onset epileptic encephalopathy | Ohtahara syndrome | Clinical genetics | Epilepsy | STXBP1
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13. Full Text STXBP1 encephalopathy is associated with awake bruxism
by Rezazadeh, Arezoo and Uddin, Mohammed and Snead, O. Carter and Lira, Victor and Silberberg, Alexandra and Weiss, Shelly and Donner, Elizabeth J and Zak, Maria and Bradbury, Laura and Scherer, Stephen W and Fasano, Alfonso and Andrade, Danielle M
Epilepsy & Behavior, ISSN 1525-5050, 03/2019, Volume 92, pp. 121 - 124
Heterozygous mutations in syntaxin-binding protein 1 ( ) gene are associated with early infantile epileptic encephalopathy 4 (EIEE4). This condition is... 
Epileptic encephalopathy | Dopamine | STXBP1 | Ohtahara syndrome | Early infantile epileptic encephalopathy 4 | Bruxism | Movement disorders | PSYCHIATRY | SLEEP BRUXISM | BEHAVIORAL SCIENCES | MUTATIONS | CLINICAL NEUROLOGY
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