| scholarly article | Q13442814 |
| P6179 | Dimensions Publication ID | 1049570412 |
| P356 | DOI | 10.1007/S12035-013-8523-6 |
| P698 | PubMed publication ID | 23934645 |
| P50 | author | Hao Deng | Q63148473 |
| P2093 | author name string | Zhi Song | |
| Xiaofei Xiu | |||
| P2860 | cites work | Distribution of chloride channel-2-immunoreactive neuronal and astrocytic processes in the hippocampus | Q73163712 |
| Patient homozygous for a recessive POLG mutation presents with features of MERRF | Q75205843 | ||
| Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene | Q78129892 | ||
| The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy | Q81325064 | ||
| Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy | Q81343608 | ||
| The genetics of Tourette syndrome | Q83629652 | ||
| A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy | Q83828124 | ||
| Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation | Q84554405 | ||
| A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy | Q28137964 | ||
| Genome search for susceptibility loci of common idiopathic generalised epilepsies | Q28140374 | ||
| Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability | Q28140752 | ||
| Structure and regulation of voltage-gated Ca2+ channels | Q28141138 | ||
| The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy | Q28142926 | ||
| 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 | ||
| A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy | Q28198095 | ||
| 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 | ||
| 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 | ||
| Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy | Q28215907 | ||
| Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy | Q28216597 | ||
| Gating effects of mutations in the Cav3.2 T-type calcium channel associated with childhood absence epilepsy | Q28239380 | ||
| An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy | Q28239938 | ||
| Effects of Cav3.2 channel mutations linked to idiopathic generalized epilepsy | Q28246902 | ||
| A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline | Q28251184 | ||
| 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 | ||
| Mutations in EFHC1 cause juvenile myoclonic epilepsy | Q28272490 | ||
| Benign familial neonatal convulsions: Evidence for clinical and genetic heterogeneity | Q28285650 | ||
| Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy | Q28295604 | ||
| Mice lacking sodium channel beta1 subunits display defects in neuronal excitability, sodium channel expression, and nodal architecture | Q28506321 | ||
| A novel gene causing a mendelian audiogenic mouse epilepsy | Q28509513 | ||
| Seizures and enhanced cortical GABAergic inhibition in two mouse models of human autosomal dominant nocturnal frontal lobe epilepsy. | Q28511988 | ||
| Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy | Q28585126 | ||
| Neuronal death and perinatal lethality in voltage-gated sodium channel alpha(II)-deficient mice | Q28592196 | ||
| Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability | Q30048274 | ||
| Copy number variants--an unexpected risk factor for the idiopathic generalized epilepsies | Q37667274 | ||
| Polymerase gamma 1 mutations: clinical correlations | Q37706927 | ||
| Mutations in GABAA receptor subunits associated with genetic epilepsies | Q37716303 | ||
| Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects | Q37721012 | ||
| Progressive myoclonic epilepsies: review of clinical, molecular and therapeutic aspects | Q37769152 | ||
| Sodium channel SCN1A and epilepsy: mutations and mechanisms | Q37787324 | ||
| Towards an integrated view of HCN channel role in epilepsy. | Q37904129 | ||
| Mitochondrial disease and epilepsy | Q37979255 | ||
| Genetics of epilepsy and relevance to current practice | Q38012351 | ||
| Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy | Q39026830 | ||
| Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy. | Q39887715 | ||
| Arrested glutamatergic synapse development in human partial epilepsy | Q41131473 | ||
| Control of M-current | Q41388008 | ||
| Persistently modified h-channels after complex febrile seizures convert the seizure-induced enhancement of inhibition to hyperexcitability | Q42214350 | ||
| A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy | Q42762210 | ||
| Guide to Receptors and Channels (GRAC), 3rd edition | Q43088119 | ||
| Mitochondrial genetics: principles and practice | Q43146278 | ||
| Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome. | Q43270703 | ||
| Autosomal dominant transmission of GLUT1 deficiency | Q43514926 | ||
| Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation | Q43518868 | ||
| Spontaneous deletion of epilepsy gene orthologs in a mutant mouse with a low electroconvulsive threshold | Q44406688 | ||
| Familial temporal lobe epilepsy with psychic auras associated with a novel LGI1 mutation. | Q44571958 | ||
| A sodium channel mutation linked to epilepsy increases ramp and persistent current of Nav1.3 and induces hyperexcitability in hippocampal neurons | Q44719523 | ||
| Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. | Q45193972 | ||
| Conditional transgenic suppression of M channels in mouse brain reveals functions in neuronal excitability, resonance and behavior. | Q45194025 | ||
| Compromised function in the Na(v)1.2 Dravet syndrome mutation R1312T. | Q45936224 | ||
| Recessive loss-of-function mutation in the pacemaker HCN2 channel causing increased neuronal excitability in a patient with idiopathic generalized epilepsy. | Q46015905 | ||
| Reduced striatal D1 receptor binding in autosomal dominant nocturnal frontal lobe epilepsy | Q46442066 | ||
| The identification of a novel mutation of nicotinic acetylcholine receptor gene CHRNB2 in a Chinese patient: Its possible implication in non-familial nocturnal frontal lobe epilepsy | Q46560496 | ||
| Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2. | Q46933257 | ||
| Electroconvulsive seizure thresholds and kindling acquisition rates are altered in mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions | Q47769060 | ||
| SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. | Q47923406 | ||
| Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. | Q48404617 | ||
| Deletion of the K(V)1.1 potassium channel causes epilepsy in mice | Q48472743 | ||
| A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity | Q48474436 | ||
| GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy. | Q48656550 | ||
| Sodium channel alpha-subunit mRNAs I, II, III, NaG, Na6 and hNE (PN1): different expression patterns in developing rat nervous system. | Q48747956 | ||
| Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. | Q48934070 | ||
| Novel Myoclonin1/EFHC1 mutations in Mexican patients with juvenile myoclonic epilepsy. | Q50933914 | ||
| Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder | Q55880058 | ||
| Autosomal dominant nocturnal frontal lobe epilepsy | Q57086664 | ||
| Muscarinic suppression of a novel voltage-sensitive K+ current in a vertebrate neurone | Q59066538 | ||
| Benign familial neonatal-infantile seizures | Q59281287 | ||
| Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation | Q59698070 | ||
| Benign familial neonatal convulsions: confirmation of genetic heterogeneity and further evidence for a second locus on chromosome 8q | Q72131305 | ||
| Epilepsy and sodium channel gene mutations: gain or loss of function? | Q35993467 | ||
| Augmented currents of an HCN2 variant in patients with febrile seizure syndromes | Q36057848 | ||
| Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. | Q36719106 | ||
| 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 | ||
| LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy. | Q37384880 | ||
| The expanding phenotype of GLUT1-deficiency syndrome | Q37420100 | ||
| A rat model for LGI1-related epilepsies | Q30273696 | ||
| New mutation c.374C>T and a putative disease-associated haplotype within SCN1B gene in Tunisian families with febrile seizures | Q30395639 | ||
| Role of voltage-gated calcium channels in epilepsy. | Q30427731 | ||
| Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy | Q30480652 | ||
| 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 | ||
| LGI1 microdeletion in autosomal dominant lateral temporal epilepsy. | Q30513770 | ||
| Cloning, distribution and functional analysis of the type III sodium channel from human brain | Q31720612 | ||
| 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 | ||
| Mutations affecting GABAergic signaling in seizures and epilepsy | Q33912426 | ||
| GABA(A) receptor alpha1 subunit mutation A322D associated with autosomal dominant juvenile myoclonic epilepsy reduces the expression and alters the composition of wild type GABA(A) receptors | Q34074424 | ||
| Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. | Q34128513 | ||
| Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation | Q34152888 | ||
| Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up | Q34195320 | ||
| Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium conductance in neurons. | Q34196045 | ||
| Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy | Q34275865 | ||
| Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene | Q34281047 | ||
| Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene | Q34577156 | ||
| Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations | Q34589588 | ||
| Expression of mutant beta2 nicotinic receptors during development is crucial for epileptogenesis. | Q34603270 | ||
| Mutation of a potassium channel-related gene in progressive myoclonic epilepsy | Q34622306 | ||
| Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function. | Q34650291 | ||
| Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants | Q34662499 | ||
| An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1). | Q34667690 | ||
| Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy | Q35101665 | ||
| The genetics of human epilepsy | Q35198044 | ||
| PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome | Q35671504 | ||
| Genetic mechanisms that underlie epilepsy | Q35752437 | ||
| Domain-dependent clustering and genotype-phenotype analysis of LGI1 mutations in ADPEAF | Q35758502 | ||
| Genes and mutations in human idiopathic epilepsy | Q35766434 | ||
| Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. | Q35906678 | ||
| The GABAA receptor alpha1 subunit epilepsy mutation A322D inhibits transmembrane helix formation and causes proteasomal degradation | Q35928809 | ||
| The intronic GABRG2 mutation, IVS6+2T->G, associated with childhood absence epilepsy altered subunit mRNA intron splicing, activated nonsense-mediated decay, and produced a stable truncated γ2 subunit | Q35977083 | ||
| KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel | Q22008501 | ||
| Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2 | Q22253421 | ||
| CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy | Q24290583 | ||
| Autosomal dominant nocturnal frontal lobe epilepsy with a mutation in the CHRNB2 gene | Q24295109 | ||
| Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development | Q24297551 | ||
| A Korean Kindred With Autosomal Dominant Nocturnal Frontal Lobe Epilepsy and Mental Retardation | Q24299927 | ||
| The layered structure of human mitochondrial DNA nucleoids | Q24302290 | ||
| 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 | ||
| Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1 | Q24312199 | ||
| A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures | Q24313526 | ||
| A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns | Q24319094 | ||
| A potassium channel mutation in neonatal human epilepsy | Q24320244 | ||
| Radicals r'aging | Q24322096 | ||
| De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy | Q24533495 | ||
| The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1 | Q24616654 | ||
| A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction | Q24626279 | ||
| Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. | Q24648494 | ||
| Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels | Q24674213 | ||
| Epidemiology of pyridoxine dependent seizures in the Netherlands | Q24674884 | ||
| Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility. | Q27301367 | ||
| De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP | Q28111582 | ||
| A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family | Q28115034 | ||
| Mutations in antiquitin in individuals with pyridoxine-dependent seizures | Q28118156 | ||
| P433 | issue | 1 | |
| P921 | main subject | molecular biology | Q7202 |
| P304 | page(s) | 352-367 | |
| P577 | publication date | 2013-08-10 | |
| P1433 | published in | Molecular Neurobiology | Q15716645 |
| P1476 | title | The molecular biology of genetic-based epilepsies | |
| P478 | volume | 49 |
| Q64911209 | Different EPHX1 methylation levels in promoter area between carbamazepine-resistant epilepsy group and carbamazepine-sensitive epilepsy group in Chinese population. |
| Q66679720 | Functional Nutrients for Epilepsy |
| Q38485872 | Genetic mutations associated with status epilepticus. |
| Q48638325 | Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia |
| Q28087505 | Molecular mechanisms of epilepsy |
| Q47131932 | Mother and daughter with adolescent-onset severe frontal lobe dysfunction and epilepsy |
| Q30691989 | Reduction of thalamic and cortical Ih by deletion of TRIP8b produces a mouse model of human absence epilepsy |
| Q34692930 | Review: Hippocampal sclerosis in epilepsy: a neuropathology review |
| Q88374864 | The genetics and molecular biology of fever-associated seizures or epilepsy |
| Q93013709 | Transcriptional Regulation of Channelopathies in Genetic and Acquired Epilepsies |
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