IndraLab

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SCN1A activates DHPS. 35 / 35
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"SCN1A-Mediated Hyperexcitability in DS: The Sodium Channel Interneuronopathy."
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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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"In most patients, DS is caused by a mutation in the sodium channel protein type 1 subunit alpha (SCN1A) gene, which encodes a voltage-dependent sodium channel (Nav1.1) [8, 9]."
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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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"Thus, use of Scn1a +/Δ mice on both 129 and B6 backgrounds enabled the study of different DS aspects."
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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 80–90% of the cases, DS is caused by de novo mutations in the SCN1A gene that encodes a voltage-gated sodium channel (Na 1.1) subunit [131]."
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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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"In 80% of the cases, DS is caused by a de novo variant in SCN1A, which encodes the voltage-gated sodium channel Na 1.1 α-subunit."
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"Over 80% of cases of Dravet Syndrome (DS) are caused by SCN1A variants, and 80–90% of these arise through de novo mutations."
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"Mutations in the human SCN1A gene are known to cause GEFS+ and DS (Catterall et al., 2010), which are both autosomal dominant disorders."
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"For example, the Na 1.1-encoding SCN1A gene, whose missense mutation causes DS, has been found with ~ 600 mutations in its sequenced coding sequences, representing 70% of cases [42]."
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"Here, we describe the successful use of CNB in a pediatric patient with typical DS caused by de-novo mutation in SCN1A with seizures refractory to numerous ASMs."
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"The patient was a 9-year-old girl with DS caused by a de-novo variant c.2415+4A->G in the SCN1A gene detected at 3 years of age via an epilepsy gene panel."
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"However, DS is mainly caused by SCN1A gene mutation, which belongs to “whole brain” epilepsy (66), resulting in over-excitability of the whole brain region without obvious focal lesions, and does not belong to the surgical indication for focal resection."
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"Moreover, Scn1a causes Na 1.1 loss of function (48), also recapitulating the characteristic neuronal alterations of DS (45, 48, 49)."
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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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"Moreover, both studies reported mild gastrointestinal issues and insomnia, but importantly, no significant increase in seizure frequency.20, 21 De novo loss‐of‐function mutations in the voltage‐gated sodium channel (VGSC) SCN1A (encoding Na 1.1) are the main cause of DS (OMIM 607208), an early‐life encephalopathy characterized by recurrent early‐life febrile seizures (FSs), and several other seizure types, including generalized tonic‐clonic (GTCS), myoclonic, and partial seizures."
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"Dravet syndrome (DS), characterized by severe epilepsy, is often caused by mutations in the SCN1A gene."
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"SCN1A-induced DS patients face a significantly higher risk of SUDEP, while SCN1B loss-of-function mutations also contribute to an increased risk of SUDEP [60]."
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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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"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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"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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"Broadly, SCN1A haploinsufficiency tends to cause DS as does SCN1B loss-of-function, however somewhat more tenuously."
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"3.1 SCN1A variants causing DS do not display a robust blood-derived episignature."
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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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"In 80% of cases, DS is caused by mutations in SCN1A, encoding the voltage-gated Na -channel Na 1.1."
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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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"DS caused by SCN1A gene mutation is associated with ASD (22, 96–98)."
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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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"Mutations in the VGSC SCN1 gene led to the loss of function of the Nav channel, causing the development of DS."
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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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"DS is dominantly caused by mutations in the SCN1A gene, which encodes the alpha subunit of a voltage-gated Na channel."
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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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