| scholarly article | Q13442814 |
| P50 | author | Samuel Berkovic | Q7410915 |
| P2093 | author name string | Steven Petrou | |
| Megan Oliva | |||
| P2860 | cites work | Radicals r'aging | Q24322096 |
| De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP | Q28111582 | ||
| A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy | Q28204457 | ||
| Molecular basis of an inherited epilepsy | Q28207595 | ||
| Comparative distribution of voltage-gated sodium channel proteins in human brain | Q28211443 | ||
| Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes | Q28236400 | ||
| Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy | Q28253135 | ||
| International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels | Q28289125 | ||
| Identification of PN1, a predominant voltage-dependent sodium channel expressed principally in peripheral neurons | Q28569751 | ||
| Parental SCN1A mutation mosaicism in familial Dravet syndrome | Q39955919 | ||
| Changes in ultrastructure and endogenous ionic channels activity during culture of HEK 293 cell line. | Q40136757 | ||
| A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel | Q40139551 | ||
| Increased neuronal firing in computer simulations of sodium channel mutations that cause generalized epilepsy with febrile seizures plus | Q40542880 | ||
| Sodium channel heterologous expression in mammalian cells and the role of the endogenous beta1-subunits | Q40680387 | ||
| Localization of the type VI voltage-gated sodium channel protein in human CNS. | Q40908703 | ||
| Persistent sodium current in mammalian central neurons | Q41117708 | ||
| Novel mRNA isoforms of the sodium channels Na(v)1.2, Na(v)1.3 and Na(v)1.7 encode predicted two-domain, truncated proteins | Q42065325 | ||
| A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation | Q42540895 | ||
| Beta1-subunit modulates the Nav1.4 sodium channel by changing the surface charge | Q42678686 | ||
| Differential expression of exon 5 splice variants of sodium channel alpha subunit mRNAs in the developing mouse brain | Q43223676 | ||
| A sodium channel mutation linked to epilepsy increases ramp and persistent current of Nav1.3 and induces hyperexcitability in hippocampal neurons | Q44719523 | ||
| Open-channel block by the cytoplasmic tail of sodium channel beta4 as a mechanism for resurgent sodium current | Q45233496 | ||
| Distinct contributions of Na(v)1.6 and Na(v)1.2 in action potential initiation and backpropagation. | Q45919318 | ||
| The spectrum of SCN1A-related infantile epileptic encephalopathies | Q48249670 | ||
| Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. | Q48404617 | ||
| Differential modulation of sodium channel gating and persistent sodium currents by the beta1, beta2, and beta3 subunits | Q48645222 | ||
| A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus | Q48678484 | ||
| Developmental expression of the novel voltage-gated sodium channel auxiliary subunit beta3, in rat CNS. | Q48881742 | ||
| A gain-of-function mutation in the sodium channel gene Scn2a results in seizures and behavioral abnormalities | Q49049294 | ||
| Nav1.1 is predominantly expressed in nodes of Ranvier and axon initial segments | Q49092166 | ||
| The multifactorial/threshold concept -- uses and misuses. | Q52308015 | ||
| De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study. | Q54600675 | ||
| Mosaic SCN1A Mutation in Familial Severe Myoclonic Epilepsy of Infancy | Q57529937 | ||
| De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin | Q57905641 | ||
| SCN2A Mutations and Benign Familial Neonatal-Infantile Seizures: The Phenotypic Spectrum | Q58417051 | ||
| Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy | Q28585126 | ||
| Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation | Q28587835 | ||
| Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice | Q30486948 | ||
| Altered function of the SCN1A voltage-gated sodium channel leads to gamma-aminobutyric acid-ergic (GABAergic) interneuron abnormalities | Q30493834 | ||
| Mechanisms of human inherited epilepsies | Q33346208 | ||
| A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome | Q33504524 | ||
| Cloning of a sodium channel alpha subunit from rabbit Schwann cells. | Q33751644 | ||
| Multi-locus models of genetic risk of disease | Q33762251 | ||
| Molecular identity of dendritic voltage-gated sodium channels | Q34115269 | ||
| Alternative splicing of the sodium channel SCN8A predicts a truncated two-domain protein in fetal brain and non-neuronal cells. | Q34439038 | ||
| Computational analysis of the R85C and R85H epilepsy mutations in Na+ channel beta1 subunits | Q34644563 | ||
| Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function. | Q34650291 | ||
| Functional properties and differential neuromodulation of Na(v)1.6 channels | Q34791973 | ||
| De novo SCN1A mutations in migrating partial seizures of infancy | Q35119591 | ||
| Inherited neuronal ion channelopathies: new windows on complex neurological diseases | Q35226085 | ||
| Cross-species conservation of open-channel block by Na channel β4 peptides reveals structural features required for resurgent Na current | Q35227380 | ||
| Na Channel β Subunits: Overachievers of the Ion Channel Family | Q35235909 | ||
| HEK293 cell line: a vehicle for the expression of recombinant proteins | Q36111123 | ||
| Sodium channel mutations in epilepsy and other neurological disorders | Q36216288 | ||
| How do mutant Nav1.1 sodium channels cause epilepsy? | Q37110851 | ||
| A catalog of SCN1A variants | Q37274545 | ||
| A functional null mutation of SCN1B in a patient with Dravet syndrome | Q37359854 | ||
| De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies | Q37368348 | ||
| Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus? | Q37388855 | ||
| NaV1.1 channels and epilepsy | Q37701079 | ||
| Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects | Q37721012 | ||
| Axon initial segment dysfunction in epilepsy | Q37726585 | ||
| Electrophysiology and beyond: multiple roles of Na+ channel β subunits in development and disease | Q37769877 | ||
| Epileptogenic ion channel mutations: From bedside to bench and, hopefully, back again | Q37786731 | ||
| The genetics of Dravet syndrome. | Q37861258 | ||
| Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy | Q39718318 | ||
| Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy | Q39735946 | ||
| Regulation of persistent Na current by interactions between beta subunits of voltage-gated Na channels | Q39881948 | ||
| Prediction by modeling that epilepsy may be caused by very small functional changes in ion channels | Q39939438 | ||
| P433 | issue | 11 | |
| P921 | main subject | neurobiology | Q2728012 |
| P304 | page(s) | 1849-1859 | |
| P577 | publication date | 2012-08-20 | |
| P1433 | published in | Epilepsia | Q5382969 |
| P1476 | title | Sodium channels and the neurobiology of epilepsy | |
| P478 | volume | 53 |
| Q92604802 | A missense mutation in SLC6A1 associated with Lennox-Gastaut syndrome impairs GABA transporter 1 protein trafficking and function |
| Q42104088 | A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy |
| Q41808396 | Aberrant epilepsy-associated mutant Nav1.6 sodium channel activity can be targeted with cannabidiol |
| Q48678204 | Biomimetic nanopores: a new age of DNA sequencing? |
| Q54441071 | Case-control association study of polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B and epilepsy. |
| Q90117068 | Central neurogenetic signatures of the visuomotor integration system |
| Q24304239 | Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy |
| Q35337890 | Comments on Motamedi G, Meador K. Epilepsy and cognition. Epilepsy & behavior 2003;4:S25-S28. |
| Q39163038 | De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis |
| Q28118989 | De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy |
| Q48129765 | Defects at the crossroads of GABAergic signaling in generalized genetic epilepsies |
| Q24629140 | Development of lacosamide for the treatment of partial-onset seizures |
| Q39732193 | Differential molecular and behavioural alterations in mouse models of GABRG2 haploinsufficiency versus dominant negative mutations associated with human epilepsy |
| Q33671879 | Differential regulation of collapsin response mediator protein 2 (CRMP2) phosphorylation by GSK3ß and CDK5 following traumatic brain injury. |
| Q45736221 | Early onset epileptic encephalopathy caused by de novo SCN8A mutations |
| Q37408962 | Early-onset familial hemiplegic migraine due to a novel SCN1A mutation |
| Q37200320 | Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A. |
| Q38192015 | Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities |
| Q41651435 | Feverish prospects for seizure genetics |
| Q55645201 | Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review. |
| Q36805699 | Genetic forms of epilepsies and other paroxysmal disorders |
| Q34198753 | Genetics of epilepsy: The testimony of twins in the molecular era |
| Q34957755 | Human slack potassium channel mutations increase positive cooperativity between individual channels |
| Q48164594 | In utero seizures revealing dentato-olivary dysplasia caused by SCN2A mutation. |
| Q47269323 | Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies |
| Q28272457 | Mechanisms of Action of Antiseizure Drugs and the Ketogenic Diet |
| Q39457643 | Models for discovery of targeted therapy in genetic epileptic encephalopathies |
| Q55253870 | Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. |
| Q28235994 | Nav1.1 modulation by a novel triazole compound attenuates epileptic seizures in rodents |
| Q92542992 | New avenues in molecular genetics for the diagnosis and application of therapeutics to the epilepsies |
| Q57646598 | Novel and de novo mutations in pediatric refractory epilepsy |
| Q54941950 | Phenytoin as a last-resort treatment in SCN8A encephalopathy. |
| Q34984138 | Physiological and genetic analysis of multiple sodium channel variants in a model of genetic absence epilepsy |
| Q47105419 | Pumilio2-deficient mice show a predisposition for epilepsy |
| Q47861997 | Re-engineering the μ-conotoxin SIIIA scaffold. |
| Q39000942 | Recent advances in epilepsy. |
| Q36484427 | Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach |
| Q92528176 | Resolving the Micro-Macro Disconnect to Address Core Features of Seizure Networks |
| Q41854467 | SCN1A and Febrile Seizures in Mesial Temporal Epilepsy: An Early Signal to Guide Prognosis and Treatment? |
| Q36052955 | SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures |
| Q40976226 | SCN2A-Related Early-Onset Epileptic Encephalopathy Responsive to Phenobarbital |
| Q35091317 | SWDreader: a wavelet-based algorithm using spectral phase to characterize spike-wave morphological variation in genetic models of absence epilepsy. |
| Q47917754 | Scn2a deletion improves survival and brain-heart dynamics in the Kcna1-null mouse model of sudden unexpected death in epilepsy (SUDEP). |
| Q50307952 | Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target? |
| Q45302772 | Singular localization of sodium channel β4 subunit in unmyelinated fibres and its role in the striatum. |
| Q38751614 | Sodium channels in astroglia and microglia |
| Q36561909 | Spectrum of SCN8A-Related Epilepsy |
| Q38148844 | Systems biology, complexity, and the impact on antiepileptic drug discovery |
| Q24602558 | Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. |
| Q35106483 | The phenotypic spectrum of SCN8A encephalopathy |
| Q38187700 | The relationship between genes affecting the development of epilepsy and approaches to epilepsy therapy |
| Q34030872 | The transcription factor NRSF contributes to epileptogenesis by selective repression of a subset of target genes. |
| Q33778333 | Voltage-gated sodium channels were differentially expressed in human normal prostate, benign prostatic hyperplasia and prostate cancer cells |
| Q55275026 | Whole-Exome Sequencing in Searching for New Variants Associated With the Development of Parkinson's Disease. |
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