Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome

2009 ◽  
Vol 31 (10) ◽  
pp. 758-762 ◽  
Author(s):  
Xiuyu Shi ◽  
Sawa Yasumoto ◽  
Eiji Nakagawa ◽  
Tatsuya Fukasawa ◽  
Satoshi Uchiya ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Missense Mutation ◽  
Dravet Syndrome ◽  
Channel Gene ◽  
Sodium Channel Gene

scholarly journals Knock-in model of Dravet syndrome reveals a constitutive and conditional reduction in sodium current

2014 ◽  
Vol 112 (4) ◽  
pp. 903-912 ◽  
Author(s):  
Ryan J. Schutte ◽  
Soleil S. Schutte ◽  
Jacqueline Algara ◽  
Eden V. Barragan ◽  
Jeff Gilligan ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Sodium Current ◽  
Dravet Syndrome ◽  
Repetitive Firing ◽  
Gabaergic Interneurons ◽  
Sodium Currents ◽  
Channel Gene ◽  
Sodium Channel Gene ◽  
Current Activity ◽  
Scn1a Mutation

Hundreds of mutations in the SCN1A sodium channel gene confer a wide spectrum of epileptic disorders, requiring efficient model systems to study cellular mechanisms and identify potential therapeutic targets. We recently demonstrated that Drosophila knock-in flies carrying the K1270T SCN1A mutation known to cause a form of genetic epilepsy with febrile seizures plus (GEFS+) exhibit a heat-induced increase in sodium current activity and seizure phenotype. To determine whether different SCN1A mutations cause distinct phenotypes in Drosophila as they do in humans, this study focuses on a knock-in line carrying a mutation that causes a more severe seizure disorder termed Dravet syndrome (DS). Introduction of the DS SCN1A mutation (S1231R) into the Drosophila sodium channel gene para results in flies that exhibit spontaneous and heat-induced seizures with distinct characteristics and lower onset temperature than the GEFS+ flies. Electrophysiological studies of GABAergic interneurons in the brains of adult DS flies reveal, for the first time in an in vivo model system, that a missense DS mutation causes a constitutive and conditional reduction in sodium current activity and repetitive firing. In addition, feeding with the serotonin precursor 5-HTP suppresses heat-induced seizures in DS but not GEFS+ flies. The distinct alterations of sodium currents in DS and GEFS+ GABAergic interneurons demonstrate that both loss- and gain-of-function alterations in sodium currents are capable of causing reduced repetitive firing and seizure phenotypes. The mutation-specific effects of 5-HTP on heat-induced seizures suggest the serotonin pathway as a potential therapeutic target for DS.

scholarly journals Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene.

1996 ◽  
Vol 97 (7) ◽  
pp. 1780-1784 ◽  
Author(s):  
H Tamura ◽  
L Schild ◽  
N Enomoto ◽  
N Matsui ◽  
F Marumo ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Missense Mutation ◽  
Epithelial Sodium Channel ◽  
Beta Subunit ◽  
Channel Gene ◽  
Sodium Channel Gene

scholarly journals Permethrin Resistance in Aedes aegypti Affects Aspects of Vectorial Capacity

Insects ◽  
2021 ◽  
Vol 12 (1) ◽  
pp. 71
Author(s):  
Tse-Yu Chen ◽  
Chelsea T. Smartt ◽  
Dongyoung Shin
Keyword(s):  
Aedes Aegypti ◽  
Sodium Channel ◽  
Mosquito Control ◽  
Vector Competence ◽  
Vectorial Capacity ◽  
Parental Population ◽  
Control Programs ◽  
Channel Gene ◽  
Sodium Channel Gene ◽  
Specific Pcr

Aedes aegypti, as one of the vectors transmitting several arboviruses, is the main target in mosquito control programs. Permethrin is used to control mosquitoes and Aedes aegypti get exposed due to its overuse and are now resistant. The increasing percentage of permethrin resistant Aedes aegypti has become an important issue around the world and the potential influence on vectorial capacity needs to be studied. Here we selected a permethrin resistant (p-s) Aedes aegypti population from a wild Florida population and confirmed the resistance ratio to its parental population. We used allele-specific PCR genotyping of the V1016I and F1534C sites in the sodium channel gene to map mutations responsible for the resistance. Two important factors, survival rate and vector competence, that impact vectorial capacity were checked. Results indicated the p-s population had 20 times more resistance to permethrin based on LD50 compared to the parental population. In the genotyping study, the p-s population had more homozygous mutations in both mutant sites of the sodium channel gene. The p-s adults survived longer and had a higher dissemination rate for dengue virus than the parental population. These results suggest that highly permethrin resistant Aedes aegypti populations might affect the vectorial capacity, moreover, resistance increased the survival time and vector competence, which should be of concern in areas where permethrin is applied.

scholarly journals Polymorphisms in voltage-gated sodium channel gene and susceptibility of Aedes albopictus to insecticides in three districts of northern West Bengal, India

2018 ◽  
Vol 12 (1) ◽  
pp. e0006192 ◽  
Author(s):  
Moytrey Chatterjee ◽  
Sudeep Ballav ◽  
Ardhendu K. Maji ◽  
Nandita Basu ◽  
Biplab Chandra Sarkar ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Aedes Albopictus ◽  
West Bengal ◽  
Voltage Gated Sodium Channel ◽  
Voltage Gated ◽  
Channel Gene ◽  
Sodium Channel Gene

scholarly journals Association between Three Mutations, F1565C, V1023G and S996P, in the Voltage-Sensitive Sodium Channel Gene and Knockdown Resistance in Aedes aegypti from Yogyakarta, Indonesia

Insects ◽  
2015 ◽  
Vol 6 (3) ◽  
pp. 658-685 ◽  
Author(s):  
Juli Wuliandari ◽  
Siu Lee ◽  
Vanessa White ◽  
Warsito Tantowijoyo ◽  
Ary Hoffmann ◽  
...  
Keyword(s):  
Aedes Aegypti ◽  
Sodium Channel ◽  
Knockdown Resistance ◽  
Channel Gene ◽  
Sodium Channel Gene

The genomic structure of the human skeletal muscle sodium channel gene

1992 ◽  
Vol 1 (7) ◽  
pp. 521-527 ◽  
Author(s):  
Andrea I.McClatchey ◽  
Carol S.Lin ◽  
Jianzhou Wang ◽  
Eric P.Hoffman ◽  
Cecilia Rojas ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Sodium Channel ◽  
Human Skeletal Muscle ◽  
Genomic Structure ◽  
Channel Gene ◽  
Sodium Channel Gene

132 TuNaII: A putative sodium channel gene specifically expressed in ascidian motoneuron lineage

1996 ◽  
Vol 25 ◽  
pp. S27
Author(s):  
Yasushi Okamura ◽  
Hitoshi Nagahora ◽  
Toshiaki Okada
Keyword(s):  
Sodium Channel ◽  
Channel Gene ◽  
Sodium Channel Gene
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