scholarly article | Q13442814 |
P356 | DOI | 10.1016/S0092-8674(00)81877-2 |
P698 | PubMed publication ID | 9039265 |
P50 | author | Jeffrey L. Noebels | Q52088877 |
P2093 | author name string | Meisler MH | |
Burgess DL | |||
Jones JM | |||
P2860 | cites work | Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1 | Q24312199 |
Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme | Q24561674 | ||
Aberrant splicing of the CHM gene is a significant cause of choroideremia | Q28207829 | ||
Structure and functional expression of a member of the low voltage-activated calcium channel family | Q28263366 | ||
Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase | Q28269082 | ||
PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein | Q28280639 | ||
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4 | Q28295213 | ||
Normalization of current kinetics by interaction between the α1and β subunits of the skeletal muscle dihydropyridine-sensitive Ca2+ channel | Q28299742 | ||
Mutation of a new sodium channel gene, Scn8a, in the mouse mutant ‘motor endplate disease’ | Q28314940 | ||
Inherited epilepsy: spike-wave and focal motor seizures in the mutant mouse tottering | Q28511653 | ||
Absence epilepsy in tottering mutant mice is associated with calcium channel defects | Q28587452 | ||
The role of GABAB receptor activation in absence seizures of lethargic (lh/lh) mice | Q28589184 | ||
Rat brain expresses a heterogeneous family of calcium channels. | Q33561306 | ||
Gene structure of the murine calcium channel beta3 subunit, cDNA and characterization of alternative splicing and transcription products | Q34377403 | ||
Primary structure and functional expression of the cardiac dihydropyridine-sensitive calcium channel | Q34661325 | ||
Functional subunit structure of voltage-gated calcium channels | Q36424603 | ||
Calcium channels, stores, and oscillations | Q37902933 | ||
Deficiency in the thymus-dependent immunity in "lethargic" mutant mice | Q39134003 | ||
Calcium signaling in neurons: molecular mechanisms and cellular consequences | Q40506441 | ||
Distinctive pharmacology and kinetics of cloned neuronal Ca2+ channels and their possible counterparts in mammalian CNS neurons. | Q40714401 | ||
A novel T-type current underlies prolonged Ca(2+)-dependent burst firing in GABAergic neurons of rat thalamic reticular nucleus | Q43510089 | ||
Induction of calcium currents by the expression of the alpha 1-subunit of the dihydropyridine receptor from skeletal muscle | Q43742103 | ||
Functional expression of a rapidly inactivating neuronal calcium channel | Q46427777 | ||
Distinctive biophysical and pharmacological properties of class A (BI) calcium channel alpha 1 subunits | Q46606744 | ||
Intrathalamic rhythmicity studied in vitro: nominal T-current modulation causes robust antioscillatory effects | Q46905400 | ||
Mutation detection in the med and medJ alleles of the sodium channel Scn8a. Unusual splicing due to a minor class AT-AC intron | Q48062096 | ||
Genetic mapping of the mouse genes encoding the voltage-sensitive calcium channel subunits | Q48071470 | ||
Subunit identification and reconstitution of the N-type Ca2+ channel complex purified from brain | Q48247030 | ||
Electrophysiological properties of guinea-pig thalamic neurones: an in vitro study | Q48684443 | ||
The alpha 2/delta subunit of voltage sensitive Ca2+ channels is a single transmembrane extracellular protein which is involved in regulated secretion | Q49021762 | ||
Properties of the alpha 1-beta anchoring site in voltage-dependent Ca2+ channels. | Q49052721 | ||
The amino terminus of a calcium channel beta subunit sets rates of channel inactivation independently of the subunit's effect on activation | Q49077510 | ||
Functional properties of a neuronal class C L-type calcium channel. | Q49129472 | ||
A beta-subunit normalizes the electrophysiological properties of a cloned N-type Ca2+ channel alpha 1-subunit | Q49129494 | ||
The roles of the subunits in the function of the calcium channel. | Q50797606 | ||
Intrinsic properties of nucleus reticularis thalami neurones of the rat studied in vitro. | Q51749930 | ||
Features of spliceosome evolution and function inferred from an analysis of the information at human splice sites. | Q52407950 | ||
Calcium currents in rat thalamocortical relay neurones: kinetic properties of the transient, low-threshold current. | Q52425365 | ||
Calcium channel β-subunit binds to a conserved motif in the I–II cytoplasmic linker of the α1-subunit | Q59055972 | ||
Localization of mRNAs of voltage-dependent Ca2+-channels: four subtypes of α1- and β-subunits in developing and mature rat brain | Q71873748 | ||
Ca2+ channel regulation by a conserved beta subunit domain | Q72129553 | ||
Selective increase in T-type calcium conductance of reticular thalamic neurons in a rat model of absence epilepsy | Q72170085 | ||
Construction of a novel database containing aberrant splicing mutations of mammalian genes | Q72375551 | ||
Molecular diversity of Ca2+ channel beta subunits | Q72799857 | ||
P433 | issue | 3 | |
P407 | language of work or name | English | Q1860 |
P304 | page(s) | 385-392 | |
P577 | publication date | 1997-02-01 | |
P1433 | published in | Cell | Q655814 |
P1476 | title | Mutation of the Ca2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse | |
P478 | volume | 88 |
Q90356350 | A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions |
Q28142024 | A new beta subtype-specific interaction in alpha1A subunit controls P/Q-type Ca2+ channel activation |
Q28509513 | A novel gene causing a mendelian audiogenic mouse epilepsy |
Q36330968 | A roadmap for precision medicine in the epilepsies |
Q30482131 | Absence seizures in C3H/HeJ and knockout mice caused by mutation of the AMPA receptor subunit Gria4 |
Q33785664 | Activity and calcium regulate nuclear targeting of the calcium channel beta4b subunit in nerve and muscle cells |
Q34946589 | Age-dependent contribution of P/Q- and R-type Ca2+ channels to neuromuscular transmission in lethargic mice |
Q48161861 | Age-related relationship between mRNA expression of GABA(B) receptors and calcium channel beta4 subunits in cacnb4lh mice |
Q41869908 | Alanine-scanning mutagenesis defines a conserved energetic hotspot in the CaValpha1 AID-CaVbeta interaction site that is critical for channel modulation. |
Q28592431 | Altered calcium channel currents in Purkinje cells of the neurological mutant mouse leaner |
Q28587315 | Altered expression and assembly of N-type calcium channel alpha1B and beta subunits in epileptic lethargic (lh/lh) mouse |
Q38431281 | Alternative splicing in the C-terminal tail of Cav2.1 is essential for preventing a neurological disease in mice |
Q48252635 | Anticonvulsant actions of LY 367385 ((+)-2-methyl-4-carboxyphenylglycine) and AIDA ((RS)-1-aminoindan-1,5-dicarboxylic acid). |
Q34016353 | Are some idiopathic epilepsies disorders of ion channels?: A working hypothesis. |
Q41737714 | Ataxia, arrhythmia and ion-channel gene defects |
Q52570117 | Auxiliary Hyperkinetic beta subunit of K+ channels: regulation of firing properties and K+ currents in Drosophila neurons. |
Q40537582 | Auxiliary subunit regulation of high-voltage activated calcium channels expressed in mammalian cells |
Q41760347 | Basic mechanisms of epilepsy: targets for therapeutic intervention |
Q35682310 | Beta subunits of voltage-gated calcium channels |
Q43715543 | Biochemical and anatomical evidence for specialized voltage-dependent calcium channel gamma isoform expression in the epileptic and ataxic mouse, stargazer |
Q47900569 | C-terminal splice variants of P/Q-type Ca2+ channel CaV2.1 α1 subunits are differentially regulated by Rab3-interacting molecule proteins. |
Q83050898 | CACNA1A mutation in a EA-2 patient responsive to acetazolamide and valproic acid |
Q34768741 | Ca2+ channels and epilepsy |
Q35682330 | Ca2+ channels as targets of neurological disease: Lambert-Eaton Syndrome and other Ca2+ channelopathies |
Q35034581 | CaV1.2 calcium channel expression in reactive astrocytes is associated with the formation of amyloid-β plaques in an Alzheimer's disease mouse model. |
Q28574061 | Cacnb4 directly couples electrical activity to gene expression, a process defective in juvenile epilepsy |
Q34288747 | Calcium channel auxiliary α2δ and β subunits: trafficking and one step beyond |
Q24329192 | Calcium channel beta 4 (CACNB4): human ortholog of the mouse epilepsy gene lethargic |
Q34015948 | Calcium channel defects in models of inherited generalized epilepsy |
Q30483026 | Calcium channel dysfunction in inferior colliculus neurons of the genetically epilepsy-prone rat |
Q33680946 | Calcium channelopathies in the central nervous system |
Q34560191 | Calcium channels and channelopathies of the central nervous system |
Q41462629 | Calcium channels prove to be a real headache |
Q35199746 | Cellular and network mechanisms of genetically-determined absence seizures. |
Q34051594 | Channelopathies: ion channel defects linked to heritable clinical disorders |
Q30835420 | Childhood absence epilepsy: genes, channels, neurons and networks. |
Q22003985 | Chromosomal localization reveals three kinesin heavy chain genes in mouse |
Q54039154 | Chromosomal mapping of genes for epilepsy in NER: a rat strain with tonic-clonic seizures. |
Q48463233 | Clinical and molecular genetic study in seven Japanese families with spinocerebellar ataxia type 6. |
Q24540213 | Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia |
Q30515384 | Confirmation of an epilepsy modifier locus on mouse chromosome 11 and candidate gene analysis by RNA-Seq |
Q28505265 | Critical role for the beta regulatory subunits of Cav channels in T lymphocyte function |
Q28504580 | Decreased (45)Ca(2)(+) uptake in P/Q-type calcium channels in homozygous lethargic (Cacnb4lh) mice is associated with increased beta3 and decreased beta4 calcium channel subunit mRNA expression |
Q30499188 | Delayed postnatal loss of P/Q-type calcium channels recapitulates the absence epilepsy, dyskinesia, and ataxia phenotypes of genomic Cacna1a mutations. |
Q30492598 | Deletion of phospholipase C beta4 in thalamocortical relay nucleus leads to absence seizures |
Q48472743 | Deletion of the K(V)1.1 potassium channel causes epilepsy in mice |
Q33748748 | Detecting genes in new and old mouse models for epilepsy: a prospectus through the magnifying glass |
Q46412714 | Development of a new genetic model for absence epilepsy: spike-wave seizures in C3H/He and backcross mice. |
Q44148359 | Differential and long-lasting alterations of high-voltage activated calcium currents in CA1 and dentate granule neurons after status epilepticus |
Q41035583 | Differential expression and association of calcium channel alpha1B and beta subunits during rat brain ontogeny |
Q41005330 | Differential expression and association of calcium channel subunits in development and disease |
Q37502534 | Differential neuronal targeting of a new and two known calcium channel β4 subunit splice variants correlates with their regulation of gene expression |
Q24651473 | Differential plasma membrane targeting of voltage-dependent calcium channel subunits expressed in a polarized epithelial cell line |
Q31125242 | Direct interaction with a nuclear protein and regulation of gene silencing by a variant of the Ca2+-channel beta 4 subunit. |
Q84738909 | Distribution of voltage gated calcium channel β subunits in the mouse retina |
Q33499148 | Diversity and developmental expression of L-type calcium channel beta2 proteins and their influence on calcium current in murine heart |
Q44931369 | Dominant-negative calcium channel suppression by truncated constructs involves a kinase implicated in the unfolded protein response. |
Q28591132 | Ducky mouse phenotype of epilepsy and ataxia is associated with mutations in the Cacna2d2 gene and decreased calcium channel current in cerebellar Purkinje cells |
Q44169583 | Early-onset absence epilepsy and paroxysmal dyskinesia |
Q42628548 | Elevated thalamic low-voltage-activated currents precede the onset of absence epilepsy in the SNAP25-deficient mouse mutant coloboma. |
Q27000395 | Emerging roles of L-type voltage-gated and other calcium channels in T lymphocytes |
Q40714988 | Enhanced expression of L-type Ca2+ channels in reactive astrocytes after ischemic injury in rats |
Q34099226 | Epilepsy genes: the link between molecular dysfunction and pathophysiology |
Q41720371 | Epilepsy genetics: an abundance of riches for biologists. |
Q37786731 | Epileptogenic ion channel mutations: From bedside to bench and, hopefully, back again |
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Q28590366 | Excitatory but not inhibitory synaptic transmission is reduced in lethargic (Cacnb4(lh)) and tottering (Cacna1atg) mouse thalami |
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Q35129602 | Exploring New Gene Discoveries in Idiopathic Generalized Epilepsy |
Q48934070 | Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. |
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Q33748759 | GABA and epileptogenesis: comparing gabrb3 gene-deficient mice with Angelman syndrome in man. |
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Q52566066 | Genetic analysis of voltage-dependent calcium channels. |
Q51831241 | Genetic characterization of a new splice variant of the beta2 subunit of the voltage-dependent calcium channel. |
Q37166535 | Genetic complexity of absence seizures in substrains of C3H mice |
Q26783154 | Genetic disruption of voltage-gated calcium channels in psychiatric and neurological disorders |
Q74311756 | Genetic mapping of the voltage-gated shaker potassium channel beta subunit Kcnab1 to mouse chromosome 3 |
Q34086321 | Genetic variation of the human glycine receptor subunit genes GLRA3 and GLRB and susceptibility to idiopathic generalized epilepsies |
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Q37470667 | Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14. |
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Q48404523 | Glucocorticoids specifically enhance L-type calcium current amplitude and affect calcium channel subunit expression in the mouse hippocampus |
Q48161869 | Glutamate decarboxylase isoforms in thalamic nuclei in lethargic mouse model of absence seizures |
Q60460170 | Haplotype and linkage disequilibrium analysis to characterise a region in the calcium channel gene CACNA1A associated with idiopathic generalised epilepsy |
Q30486948 | Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice |
Q22009467 | Identification and cloning of putative human neuronal voltage-gated calcium channel gamma-2 and gamma-3 subunits: neurologic implications |
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Q34432267 | Identification of epilepsy genes in human and mouse |
Q37850529 | Identifying targets for preventing epilepsy using systems biology |
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Q34937491 | Insights from mouse models of absence epilepsy into Ca2+ channel physiology and disease etiology |
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Q36133211 | Interneuronal calcium channel abnormalities in posttraumatic epileptogenic neocortex |
Q38795017 | Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy |
Q52134526 | Ion Channelopathies and Heritable Epilepsy. |
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Q33534658 | Ion channels and the genetic contribution to epilepsy |
Q73333041 | Kindling induces a long-term enhancement in the density of N-type calcium channels in the rat hippocampus |
Q48163280 | Kindling induces an asymmetric enhancement of N-type Ca2+ channel density in the dendritic fields of the rat hippocampus |
Q38175138 | L-type CaV1.2 calcium channels: from in vitro findings to in vivo function. |
Q48655789 | Linkage analysis between childhood absence epilepsy and genes encoding GABAA and GABAB receptors, voltage-dependent calcium channels, and the ECA1 region on chromosome 8q. |
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Q38279487 | Loss of inhibitory neuron AMPA receptors contributes to ataxia and epilepsy in stargazer mice |
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Q41519952 | Models and detection of spontaneous recurrent seizures in laboratory rodents. |
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