Faculty Opinions recommendation of A Cav3.2 T-type calcium channel point mutation has splice-variant-specific effects on function and segregates with seizure expression in a polygenic rat model of absence epilepsy.

2009 ◽  
Author(s):  
Gerald Zamponi
Keyword(s):  
Calcium Channel ◽  
Point Mutation ◽  
Rat Model ◽  
Splice Variant ◽  
Absence Epilepsy ◽  
Specific Effects

scholarly journals Splice-variant specific effects of a CACNA1H mutation associated with writer’s cramp

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Ivana A. Souza ◽  
Maria A. Gandini ◽  
Gerald W. Zamponi
Keyword(s):  
Calcium Channel ◽  
Splice Variant ◽  
Low Voltage ◽  
Expression Patterns ◽  
Multiple Channel ◽  
Writer’S Cramp ◽  
Specific Effects ◽  
Recovery From Inactivation ◽  
Alternative Mrna Splicing ◽  
Writer's Cramp

AbstractThe CACNA1H gene encodes the α1 subunit of the low voltage-activated Cav3.2 T-type calcium channel, an important regulator of neuronal excitability. Alternative mRNA splicing can generate multiple channel variants with distinct biophysical properties and expression patterns. Two major splice variants, containing or lacking exon 26 (± 26) have been found in different human tissues. In this study, we report splice variant specific effects of a Cav3.2 mutation found in patients with autosomal dominant writer’s cramp, a specific type of focal dystonia. We had previously reported that the R481C missense mutation caused a gain of function effect when expressed in Cav3.2 (+ 26) by accelerating its recovery from inactivation. Here, we show that when the mutation is expressed in the short variant of the channel (− 26), we observe a significant increase in current density when compared to wild-type Cav3.2 (− 26) but the effect on the recovery from inactivation is lost. Our data add to growing evidence that the functional expression of calcium channel mutations depends on which splice variant is being examined.

Etanercept rescues cognitive deficits, depression-like symptoms, and spike-wave discharge incidence in WAG/Rij rat model of absence epilepsy

2021 ◽  
Vol 115 ◽  
pp. 107532
Author(s):  
Ayşe Karson ◽  
Tijen Utkan ◽  
Tuğçe Demirtaş Şahin ◽  
Fuat Balcı ◽  
Sertan Arkan ◽  
...  
Keyword(s):  
Cognitive Deficits ◽  
Rat Model ◽  
Absence Epilepsy ◽  
Wave Discharge ◽  
Spike Wave

scholarly journals Selective increase in T-type calcium conductance of reticular thalamic neurons in a rat model of absence epilepsy

1995 ◽  
Vol 15 (4) ◽  
pp. 3110-3117 ◽  
Author(s):  
E Tsakiridou ◽  
L Bertollini ◽  
M de Curtis ◽  
G Avanzini ◽  
HC Pape
Keyword(s):  
Rat Model ◽  
Absence Epilepsy ◽  
Thalamic Neurons ◽  
Calcium Conductance ◽  
Selective Increase

scholarly journals Gating Effects of Mutations in the Cav3.2 T-type Calcium Channel Associated with Childhood Absence Epilepsy

2004 ◽  
Vol 279 (11) ◽  
pp. 9681-9684 ◽  
Author(s):  
Houman Khosravani ◽  
Christophe Altier ◽  
Brett Simms ◽  
Kevin S. Hamming ◽  
Terrance P. Snutch ◽  
...  
Keyword(s):  
Calcium Channel ◽  
Absence Epilepsy ◽  
Childhood Absence Epilepsy
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