Mutation of the Ca2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse

scientific article published in February 1997

Mutation of the Ca2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/S0092-8674(00)81877-2
P698PubMed publication ID9039265

P50authorJeffrey L. NoebelsQ52088877
P2093author name stringMeisler MH
Burgess DL
Jones JM
P2860cites workEpisodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1Q24312199
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Aberrant splicing of the CHM gene is a significant cause of choroideremiaQ28207829
Structure and functional expression of a member of the low voltage-activated calcium channel familyQ28263366
Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPaseQ28269082
PKD2, a gene for polycystic kidney disease that encodes an integral membrane proteinQ28280639
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4Q28295213
Normalization of current kinetics by interaction between the α1and β subunits of the skeletal muscle dihydropyridine-sensitive Ca2+ channelQ28299742
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 totteringQ28511653
Absence epilepsy in tottering mutant mice is associated with calcium channel defectsQ28587452
The role of GABAB receptor activation in absence seizures of lethargic (lh/lh) miceQ28589184
Rat brain expresses a heterogeneous family of calcium channels.Q33561306
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Primary structure and functional expression of the cardiac dihydropyridine-sensitive calcium channelQ34661325
Functional subunit structure of voltage-gated calcium channelsQ36424603
Calcium channels, stores, and oscillationsQ37902933
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Calcium signaling in neurons: molecular mechanisms and cellular consequencesQ40506441
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 nucleusQ43510089
Induction of calcium currents by the expression of the alpha 1-subunit of the dihydropyridine receptor from skeletal muscleQ43742103
Functional expression of a rapidly inactivating neuronal calcium channelQ46427777
Distinctive biophysical and pharmacological properties of class A (BI) calcium channel alpha 1 subunitsQ46606744
Intrathalamic rhythmicity studied in vitro: nominal T-current modulation causes robust antioscillatory effectsQ46905400
Mutation detection in the med and medJ alleles of the sodium channel Scn8a. Unusual splicing due to a minor class AT-AC intronQ48062096
Genetic mapping of the mouse genes encoding the voltage-sensitive calcium channel subunitsQ48071470
Subunit identification and reconstitution of the N-type Ca2+ channel complex purified from brainQ48247030
Electrophysiological properties of guinea-pig thalamic neurones: an in vitro studyQ48684443
The alpha 2/delta subunit of voltage sensitive Ca2+ channels is a single transmembrane extracellular protein which is involved in regulated secretionQ49021762
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 activationQ49077510
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-subunitQ49129494
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-subunitQ59055972
Localization of mRNAs of voltage-dependent Ca2+-channels: four subtypes of α1- and β-subunits in developing and mature rat brainQ71873748
Ca2+ channel regulation by a conserved beta subunit domainQ72129553
Selective increase in T-type calcium conductance of reticular thalamic neurons in a rat model of absence epilepsyQ72170085
Construction of a novel database containing aberrant splicing mutations of mammalian genesQ72375551
Molecular diversity of Ca2+ channel beta subunitsQ72799857
P433issue3
P407language of work or nameEnglishQ1860
P304page(s)385-392
P577publication date1997-02-01
P1433published inCellQ655814
P1476titleMutation of the Ca2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse
P478volume88

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