| review article | Q7318358 |
| scholarly article | Q13442814 |
| P6179 | Dimensions Publication ID | 1017769091 |
| P356 | DOI | 10.1016/J.NURT.2007.01.009 |
| P698 | PubMed publication ID | 17395140 |
| P5875 | ResearchGate publication ID | 51378483 |
| P50 | author | Samuel Berkovic | Q7410915 |
| Ingrid Scheffer | Q18687923 | ||
| Leanne Dibbens | Q75839859 | ||
| Sarah E Heron | Q44256432 | ||
| P2093 | author name string | John C Mulley | |
| P2860 | cites work | Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2 | Q22253421 |
| Structural biology: A 3D view of sodium channels | Q22337280 | ||
| CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy | Q24290583 | ||
| The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits | Q24305489 | ||
| A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy | Q24308706 | ||
| A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns | Q24319094 | ||
| A potassium channel mutation in neonatal human epilepsy | Q24320244 | ||
| A new molecular mechanism for severe myoclonic epilepsy of infancy: Exonic deletions in SCN1A | Q58417059 | ||
| Prediction of drug resistance in epilepsy: not as easy as ABC | Q58417074 | ||
| Benign familial neonatal-infantile seizures | Q59281287 | ||
| Parental mosaicism can cause recurrent transmission ofSCN1A mutations associated with severe myoclonic epilepsy of infancy | Q60453174 | ||
| Lamotrigine and Seizure Aggravation in Severe Myoclonic Epilepsy | Q62376625 | ||
| Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy | Q79215682 | ||
| SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy | Q79282578 | ||
| [Clinical and mutational analysis of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions] | Q80046219 | ||
| A novel GABRG2 mutation associated with febrile seizures | Q80148743 | ||
| Seizure phenotypes of a family with missense mutations in SCN2A | Q80431036 | ||
| Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation | Q80795910 | ||
| Gene symbol: KCNQ2. Disease: Benign neonatal familial convulsion | Q81198906 | ||
| A novel SCN2A mutation in family with benign familial infantile seizures | Q82283082 | ||
| Ion channels and epilepsy | Q82635248 | ||
| Infantile seizures and other epileptic phenotypes in a Chinese family with a missense mutation of KCNQ2 | Q83324418 | ||
| A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy | Q83828124 | ||
| De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy | Q24533495 | ||
| A carboxy-terminal domain determines the subunit specificity of KCNQ K+ channel assembly | Q24534565 | ||
| Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel | Q24555140 | ||
| Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus | Q24632952 | ||
| Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features | Q24643177 | ||
| Five ADNFLE Mutations Reduce the Ca2+ Dependence of the Mammalian α4β2 Acetylcholine Response | Q24656792 | ||
| Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear | Q24678710 | ||
| A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family | Q28115034 | ||
| Stiripentol in severe myoclonic epilepsy in infancy: a randomised placebo-controlled syndrome-dedicated trial. STICLO study group | Q28138394 | ||
| Early identification of refractory epilepsy | Q28144133 | ||
| A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions | Q28144219 | ||
| Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy | Q28181531 | ||
| First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene | Q28186139 | ||
| Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures | Q28186159 | ||
| Association between genetic variation of CACNA1H and childhood absence epilepsy | Q28191095 | ||
| The identification and characterization of a noncontinuous calmodulin-binding site in noninactivating voltage-dependent KCNQ potassium channels | Q28198311 | ||
| Sodium-channel defects in benign familial neonatal-infantile seizures | Q28202961 | ||
| A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy | Q28204457 | ||
| Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions | Q28204791 | ||
| KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum | Q28208104 | ||
| Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies | Q28213203 | ||
| A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions | Q28214606 | ||
| Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy | Q28216597 | ||
| Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes | Q28236400 | ||
| A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 years | Q28239316 | ||
| Gating effects of mutations in the Cav3.2 T-type calcium channel associated with childhood absence epilepsy | Q28239380 | ||
| Effects of Cav3.2 channel mutations linked to idiopathic generalized epilepsy | Q28246902 | ||
| SCN1A mutations and epilepsy | Q28249270 | ||
| Functional characterization and neuronal modeling of the effects of childhood absence epilepsy variants of CACNA1H, a T-type calcium channel | Q28250190 | ||
| Complete loss of the cytoplasmic carboxyl terminus of the KCNQ2 potassium channel: a novel mutation in a large Czech pedigree with benign neonatal convulsions or other epileptic phenotypes | Q28251258 | ||
| Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy | Q28251815 | ||
| Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy | Q28253135 | ||
| Genetic variation of CACNA1H in idiopathic generalized epilepsy | Q28253145 | ||
| GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies | Q28259064 | ||
| Association analysis of the Arg220His variation of the human gene encoding the GABA delta subunit with idiopathic generalized epilepsy | Q28262152 | ||
| Andreas Rett and benign familial neonatal convulsions revisited | Q28263085 | ||
| Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine | Q28264653 | ||
| A novel mutation in KCNQ2 gene causes benign familial neonatal convulsions in a Chinese family | Q28264910 | ||
| The neurobiology of antiepileptic drugs | Q28267900 | ||
| A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation | Q28271684 | ||
| Severe epilepsy, retardation, and dysmorphic features with a 2q deletion including SCN1A and SCN2A | Q28271719 | ||
| Mutations in EFHC1 cause juvenile myoclonic epilepsy | Q28272490 | ||
| Functional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC) | Q28277873 | ||
| A de novo LGI1 mutation in sporadic partial epilepsy with auditory features | Q28280480 | ||
| Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy | Q28292575 | ||
| Delta subunit susceptibility variants E177A and R220H associated with complex epilepsy alter channel gating and surface expression of alpha4beta2delta GABAA receptors | Q28295071 | ||
| De novo KCNQ2 mutations in patients with benign neonatal seizures | Q28298173 | ||
| Calmodulin is an auxiliary subunit of KCNQ2/3 potassium channels | Q28511803 | ||
| The epilepsy-linked Lgi1 protein assembles into presynaptic Kv1 channels and inhibits inactivation by Kvbeta1 | Q28567361 | ||
| Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy | Q28585126 | ||
| Variations on an inhibitory theme: phasic and tonic activation of GABA(A) receptors | Q29616809 | ||
| Neonatal seizures with tonic clonic sequences and poor developmental outcome | Q30858059 | ||
| Unraveling monogenic channelopathies and their implications for complex polygenic disease | Q33905030 | ||
| Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. | Q34128513 | ||
| The epidemiology of epilepsy revisited | Q34184552 | ||
| Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures | Q34212724 | ||
| Current status and future directions in the pharmacotherapy of epilepsy | Q34552599 | ||
| Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction. | Q35444869 | ||
| Autosomal dominant nocturnal frontal lobe epilepsy--a critical overview | Q35865848 | ||
| Ion channels as important targets for antiepileptic drug design | Q35912513 | ||
| Genetic association studies in epilepsy: "the truth is out there". | Q35929994 | ||
| Nonsense-mediated mRNA decay in mammals | Q36110337 | ||
| Sacred disease secrets revealed: the genetics of human epilepsy | Q36210058 | ||
| Susceptibility genes for complex epilepsy | Q36294697 | ||
| Genetics of idiopathic generalized epilepsies | Q36319378 | ||
| Management guidelines for children with idiopathic generalized epilepsy | Q36319416 | ||
| Practical management issues for idiopathic generalized epilepsies | Q36319425 | ||
| Treatment with anti-epileptic drugs. | Q36333472 | ||
| Update on pharmacogenetics in epilepsy: a brief review. | Q36373816 | ||
| Genetic dissection of the common epilepsies | Q36421601 | ||
| Voltage-gated calcium channels and idiopathic generalized epilepsies. | Q36525559 | ||
| A polygenic heterogeneity model for common epilepsies with complex genetics. | Q36845174 | ||
| A Kv4.2 truncation mutation in a patient with temporal lobe epilepsy. | Q40239412 | ||
| Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. | Q44592858 | ||
| Functional analysis of Ca3.2 T-type calcium channel mutations linked to childhood absence epilepsy. | Q46984919 | ||
| Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile seizures. | Q48404454 | ||
| Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. | Q48404617 | ||
| A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity | Q48474436 | ||
| Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. | Q48934070 | ||
| Subthreshold changes of voltage-dependent activation of the K(V)7.2 channel in neonatal epilepsy. | Q50645948 | ||
| Epilepsies in twins: genetics of the major epilepsy syndromes. | Q50895975 | ||
| Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients. | Q54590725 | ||
| De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study. | Q54600675 | ||
| Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder | Q55880058 | ||
| Autosomal dominant nocturnal frontal lobe epilepsy | Q57086664 | ||
| Mosaic SCN1A Mutation in Familial Severe Myoclonic Epilepsy of Infancy | Q57529937 | ||
| Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy | Q57588337 | ||
| P433 | issue | 2 | |
| P304 | page(s) | 295-304 | |
| P577 | publication date | 2007-04-01 | |
| P1433 | published in | Neurotherapeutics | Q15716631 |
| P1476 | title | Channelopathies in idiopathic epilepsy | |
| P478 | volume | 4 |
| Q56639393 | A Longitudinal Study of Survival in Belgian Shepherds with Genetic Epilepsy |
| Q47109647 | A Subset of Dogs with Presumptive Idiopathic Epilepsy Show Hippocampal Asymmetry: A Volumetric Comparison with Non-Epileptic Dogs Using MRI. |
| Q30538580 | A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation |
| Q34464870 | A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes. |
| Q36845174 | A polygenic heterogeneity model for common epilepsies with complex genetics. |
| Q36917377 | A review of potassium channels in bipolar disorder |
| Q35035419 | Candidate genes for idiopathic epilepsy in four dog breeds. |
| Q36774698 | Challenges in the design and conduct of therapeutic trials in channel disorders |
| Q37149241 | Chipping away at the common epilepsies with complex genetics: the 15q13.3 microdeletion shows the way. |
| Q43166554 | Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures |
| Q38178326 | Development of individualized medicine for epilepsy based on genetic information |
| Q46546403 | Effect of chronic fluoxetine treatment on audiogenic epilepsy, symptoms of anxiety and depression in rats of four lines |
| Q37753456 | Epilepsy as a dynamic disease: a tutorial of the past with an eye to the future |
| Q36852883 | Epilepsy, E/I Balance and GABA(A) Receptor Plasticity. |
| Q33280531 | Familial hemiplegic migraine |
| Q36301315 | Finding Channels |
| Q51819010 | First mutation in the voltage-gated Nav1.1 subunit gene SCN1A with co-occurring familial hemiplegic migraine and epilepsy. |
| Q37220081 | Forty years from markers to genes |
| Q39166783 | Functional modulation of voltage-dependent sodium channel expression by wild type and mutated C121W-β1 subunit. |
| Q34791973 | Functional properties and differential neuromodulation of Na(v)1.6 channels |
| Q26861471 | Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models |
| Q36925220 | Genetic variations and associated pathophysiology in the management of epilepsy. |
| Q34334100 | Genetically complex epilepsies, copy number variants and syndrome constellations |
| Q37670661 | Genetically encoded optical sensors for monitoring of intracellular chloride and chloride-selective channel activity |
| Q34198753 | Genetics of epilepsy: The testimony of twins in the molecular era |
| Q37705120 | HCN-related channelopathies. |
| Q53826883 | High-throughput behavioral assay to investigate seizure sensitivity in zebrafish implicates ZFHX3 in epilepsy. |
| Q35373045 | Idiopathic generalized epilepsy and hypokalemic periodic paralysis in a family of South Indian descent |
| Q34613758 | Ion channel pharmacology. |
| Q45022179 | KCNT1 mutations in ADNFLE and MMPSI: a new driver in the etiology and pathophysiology of early-onset epileptic syndromes. |
| Q57767434 | Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy |
| Q36760270 | Model systems for studying cellular mechanisms of SCN1A-related epilepsy |
| Q28513751 | Mutations in DEPDC5 cause familial focal epilepsy with variable foci |
| Q30498134 | Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus |
| Q36612676 | No relation between EFHC2 gene polymorphism and Idiopathic generalized epilepsy |
| Q30642893 | Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function |
| Q48133335 | Nocturnal frontal lobe epilepsy. |
| Q33939383 | Osteopenia due to enhanced cathepsin K release by BK channel ablation in osteoclasts. |
| Q43064770 | Prevalence of Epilepsy among Cataract Patients |
| Q30427731 | Role of voltage-gated calcium channels in epilepsy. |
| Q57490979 | Sleep Related Epilepsy and Pharmacotherapy: An Insight |
| Q38626606 | Targeting voltage-gated calcium channels in neurological and psychiatric diseases |
| Q34927551 | Therapeutic approaches to ion channel diseases |
| Q39887715 | Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy. |
| Q37102227 | What's new in: "genetics in childhood epilepsy". |
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