| scholarly article | Q13442814 |
| P50 | author | Jay Shendure | Q15989781 |
| Lynette Sadleir | Q6708829 | ||
| Samuel Berkovic | Q7410915 | ||
| Ingrid Scheffer | Q18687923 | ||
| Peter De Jonghe | Q30089863 | ||
| Sarah Weckhuysen | Q30089868 | ||
| Hiltrud Muhle | Q30500439 | ||
| Sarah von Spiczak | Q30500585 | ||
| Brian J O'Roak | Q52280100 | ||
| Jacinta M McMahon | Q56492941 | ||
| Deepak Gill | Q56492945 | ||
| Rikke S Møller | Q61819699 | ||
| Leanne Dibbens | Q75839859 | ||
| Arvid Suls | Q79920689 | ||
| Gemma L Carvill | Q90291301 | ||
| Heather C. Mefford | Q92098631 | ||
| Marina Nikanorova | Q114340227 | ||
| Corinna Hartmann | Q114404501 | ||
| Eileen Geraghty | Q117237539 | ||
| P2093 | author name string | Ingo Helbig | |
| Bree L Hodgson | |||
| Joseph Cook | |||
| Alison Clarke | |||
| Elena V Gazina | |||
| Helle Hjalgrim | |||
| Steve Petrou | |||
| P2860 | cites work | Radicals r'aging | Q24322096 |
| De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy | Q24533495 | ||
| De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome | Q24600816 | ||
| Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. | Q24602558 | ||
| De novo mutations in epileptic encephalopathies | Q24621776 | ||
| Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus | Q24632952 | ||
| Fast and accurate short read alignment with Burrows-Wheeler transform | Q24653853 | ||
| The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data | Q27860742 | ||
| Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+? | Q28211213 | ||
| Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy | Q28216597 | ||
| Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1 | Q28217928 | ||
| Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders | Q28279421 | ||
| Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females | Q33408779 | ||
| De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy | Q34777802 | ||
| Rare copy number variants are an important cause of epileptic encephalopathies | Q35632675 | ||
| A new paradigm of channelopathy in epilepsy syndromes: intracellular trafficking abnormality of channel molecules. | Q36543720 | ||
| A functional null mutation of SCN1B in a patient with Dravet syndrome | Q37359854 | ||
| The genetics of Dravet syndrome. | Q37861258 | ||
| Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy. | Q42607120 | ||
| Do mutations in SCN1B cause Dravet syndrome? | Q44893426 | ||
| Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers | Q45171119 | ||
| A homozygous mutation of voltage-gated sodium channel β(I) gene SCN1B in a patient with Dravet syndrome | Q48297410 | ||
| Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. | Q48404617 | ||
| A novel STXBP1 mutation causes focal seizures with neonatal onset | Q48506471 | ||
| Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. | Q48934070 | ||
| Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations | Q49032645 | ||
| STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients. | Q49043808 | ||
| De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy | Q50307422 | ||
| Novel STXBP1 mutations in 2 patients with early infantile epileptic encephalopathy. | Q51257067 | ||
| Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations. | Q51836559 | ||
| A long-term follow-up study of Dravet syndrome up to adulthood. | Q51858326 | ||
| Generalized epilepsy with febrile seizures plus: A common childhood-onset genetic epilepsy syndrome | Q58417182 | ||
| Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome | Q59697637 | ||
| STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern | Q59697651 | ||
| Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome | Q60453026 | ||
| A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy | Q83828124 | ||
| Targeted next generation sequencing as a diagnostic tool in epileptic disorders | Q84182666 | ||
| P433 | issue | 14 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 1245-1253 | |
| P577 | publication date | 2014-03-12 | |
| P1433 | published in | Neurology | Q1161692 |
| P1476 | title | GABRA1 and STXBP1: novel genetic causes of Dravet syndrome | |
| P478 | volume | 82 |
| Q92373378 | A case of Dravet Syndrome with a newly defined mutation in the SCN1A gene |
| Q34543571 | A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy |
| Q115033376 | A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure |
| Q92604802 | A missense mutation in SLC6A1 associated with Lennox-Gastaut syndrome impairs GABA transporter 1 protein trafficking and function |
| Q55060113 | A mutation in GABRB3 associated with Dravet syndrome. |
| Q91666188 | A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay |
| Q48449148 | A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism |
| Q36330968 | A roadmap for precision medicine in the epilepsies |
| Q90340829 | Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies |
| Q26798035 | Advancing epilepsy genetics in the genomic era |
| Q37634832 | Altered Channel Conductance States and Gating of GABAA Receptors by a Pore Mutation Linked to Dravet Syndrome. |
| Q42432437 | Clinical Genetic Testing in Epilepsy |
| Q60955583 | Clinical and molecular analysis of epilepsy-related genes in patients with Dravet syndrome |
| Q64948892 | Clinical spectrum of STX1B-related epileptic disorders. |
| Q55098524 | Common Ribs of Inhibitory Synaptic Dysfunction in the Umbrella of Neurodevelopmental Disorders. |
| Q63432840 | Cryo-EM structure of the human α1β3γ2 GABA receptor in a lipid bilayer |
| Q46085643 | De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures |
| Q39966055 | De novo GABRA1 mutations in Ohtahara and West syndromes |
| Q24563008 | De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies |
| Q89369188 | De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy |
| Q48129765 | Defects at the crossroads of GABAergic signaling in generalized genetic epilepsies |
| Q38566303 | Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy |
| Q93189181 | Dravet Syndrome: An Overview |
| Q38855478 | Dravet Syndrome: Diagnosis and Long-Term Course. |
| Q40040294 | Dravet syndrome and its mimics: Beyond SCN1A. |
| Q41220933 | Dravet syndrome in Sweden: a population-based study |
| Q38985804 | Dysarthria and broader motor speech deficits in Dravet syndrome. |
| Q30387901 | Epilepsy, Behavioral Abnormalities, and Physiological Comorbidities in Syntaxin-Binding Protein 1 (STXBP1) Mutant Zebrafish. |
| Q39417475 | Epilepsy: Transition from pediatric to adult care. Recommendations of the Ontario epilepsy implementation task force |
| Q48213096 | Epileptic Encephalopathies as Neurodegenerative Disorders |
| Q39147509 | Epileptic Encephalopathies-Clinical Syndromes and Pathophysiological Concepts |
| Q38715101 | Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes |
| Q28115275 | Epileptic encephalopathy de novo GABRB mutations impair GABAA receptor function |
| Q40378358 | Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases. |
| Q47109359 | GABA A Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy |
| Q37356251 | Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies |
| Q47967839 | Genetic and Molecular Regulation of Extrasynaptic GABA-A Receptors in the Brain: Therapeutic Insights for Epilepsy. |
| Q36805699 | Genetic forms of epilepsies and other paroxysmal disorders |
| Q50036814 | Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots |
| Q47841401 | Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases |
| Q36210601 | Incidence of Dravet Syndrome in a US Population |
| Q38795017 | Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy |
| Q47269323 | Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies |
| Q35745930 | Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases |
| Q59126308 | Mechanism-based rescue of Munc18-1 dysfunction in varied encephalopathies by chemical chaperones |
| Q36105022 | Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene? |
| Q39457643 | Models for discovery of targeted therapy in genetic epileptic encephalopathies |
| Q92901570 | Molecular Modelling and Dynamics Study of nsSNP in STXBP1 Gene in Early Infantile Epileptic Encephalopathy Disease |
| Q28087505 | Molecular mechanisms of epilepsy |
| Q47778090 | Mutations in GABRB3: From febrile seizures to epileptic encephalopathies. |
| Q36456714 | Normal Molecular Specification and Neurodegenerative Disease-Like Death of Spinal Neurons Lacking the SNARE-Associated Synaptic Protein Munc18-1. |
| Q52640709 | Novel SCN1A and GABRA1 Gene Mutations With Diverse Phenotypic Features and the Question on the Existence of a Broader Spectrum of Dravet Syndrome. |
| Q92178215 | Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes |
| Q90376795 | Phenotypic variability of GABRA1-related epilepsy in monozygotic twins |
| Q39552867 | Pitfalls in genetic testing: the story of missed SCN1A mutations |
| Q28397138 | Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals |
| Q30366940 | Prioritizing the development of mouse models for childhood brain disorders |
| Q41696492 | Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1. |
| Q41369999 | Rapid whole-genome sequencing identifies a novel GABRA1 variant associated with West syndrome. |
| Q37591772 | SCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome. |
| Q45872724 | STXBP1 as a therapeutic target for epileptic encephalopathy |
| Q41596624 | STXBP1-Related EOEE - Early Onset Epilepsy AND Encephalopathy, or is it Early Onset Epileptic Encephalopathy? |
| Q92456983 | STXBP1-associated neurodevelopmental disorder: a comparative study of behavioural characteristics |
| Q42151215 | Single-cell genetic expression of mutant GABAA receptors causing Human genetic epilepsy alters dendritic spine and GABAergic bouton formation in a mutation-specific manner |
| Q89775482 | Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy |
| Q30840162 | Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder |
| Q38802640 | Synaptic signalling and its interface with neuropathologies: snapshots from the past, present and future |
| Q40141522 | Synaptopathies Heat Up: Mutations in STX1B in Fever-Associated Epilepsies |
| Q38632636 | The contribution of next generation sequencing to epilepsy genetics. |
| Q27308026 | The developmental evolution of the seizure phenotype and cortical inhibition in mouse models of juvenile myoclonic epilepsy |
| Q38644331 | The genetic landscape of the epileptic encephalopathies of infancy and childhood. |
| Q38501842 | The genetics of the epilepsies. |
| Q27312345 | The human epilepsy mutation GABRG2(Q390X) causes chronic subunit accumulation and neurodegeneration |
| Q50565779 | The incidence of SCN1A-related Dravet syndrome in Denmark is 1:22,000: a population-based study from 2004 to 2009. |
| Q41986666 | The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome |
| Q39147513 | Transcranial Magnetic and Direct Current Stimulation in Children |
| Q28080066 | Understanding Genotypes and Phenotypes in Epileptic Encephalopathies |
| Q37741362 | Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching |
| Q39144048 | Zebrafish models in neuropsychopharmacology and CNS drug discovery |
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