IndraLab

Statements

SCN1A activates DHPS. 16 / 16
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"DS is primarily caused by mutations in the SCN1A gene encoding the voltage-gated sodium channel Na V 1.1, which is highly expressed in GABAergic reticular thalamus (nRT) neurons as well as glutamatergic thalamocortical neurons."
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"Haploinsufficiency of the SCN1A gene encoding voltage gated sodium channel Na V 1.1 causes Dravet Syndrome (DS), a childhood neuropsychiatric disorder including recurrent intractable seizures, cognitive deficit, and autism-spectrum behaviors."
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"We investigated whether such conditional KO of Scn1a is also sufficient to cause DS like thermoregulatory impairment, using Dlx56 Scn1a KO mice in which the mutation is restricted to GABAergic interneurons (Methods)."
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"Mouse models of DS have been generated by targeted deletion of mouse Scn1a and knock-in of a human SCN1A premature truncation mutation causing DS XREF_BIBR, XREF_BIBR."
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"In approximately 60-80% of patients, DS is caused by a mutation in SCN1A, the gene encoding the alpha-subunit of the voltage gated sodium channel NaV1.1 whose function contributes to the rising phase of the action potential (Bender etal."
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"In most cases, DS is caused by a heterozygous truncation or loss-of-function missense mutation in SCN1A, the gene which encodes the brain Type-I voltage gated sodium channel Na v 1.1."
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"DS caused by SCN1A gene mutation is associated with ASD (22, 96–98)."
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"The purpose of this study was to identify genes other than SCN1A that may also cause DS or DS-like phenotypes."
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"In more than 80% of cases, DS is caused by de novo variants of the SCN1A gene, 50–60% of which result in haploinsufficiency of the voltage-gated sodium channel α subunit Na 1.1 (11–16)."
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"Therefore, this conditional Scn1a +/- breeding strategy allows a colony of DS mice to be maintained with ~ 1/3 to ~ 1/2 as many breeding pairs as would be required for a colony of our previously described DS mice."
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"Rare mutations in SCN1A cause a wide spectrum of epilepsy syndromes, including genetic epilepsy with febrile seizures plus (GEFS+) and Dravet syndrome (DS, also known as severe myoclonic epilepsy of infancy) 5, depending on the nature of the mutation and possible genetic modifiers on other genes 30."
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"In 85% of cases, DS is caused by mutations in the SCN1A gene, resulting in loss of function of the type I voltage gated sodium channel (Na v 1.1)."
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"Broadly, SCN1A haploinsufficiency tends to cause DS as does SCN1B loss-of-function, however somewhat more tenuously."
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"9 DS is caused by mutations in SCN1A in >90% of cases and is characterized by often prolonged, intractable seizures that typically begin in the first 18 months of life."
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"In more than 70% of cases, DS is caused by de novo mutations in the SCN1A gene which encodes the alpha subunit of the neuronal voltage gated sodium channel Na v 1.1 XREF_BIBR, XREF_BIBR."
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"XREF_BIBR; XREF_BIBR DS is most often caused by mutations in the SCN1A gene, encoding the voltage gated sodium channel (VGSC) Na v 1.1."
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