IndraLab

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"We studied a mouse model of Dravet syndrome, a severe childhood epilepsy caused by mutations in the human SCN1A gene encoding the voltage gated sodium channel subunit Na v 1.1."

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"XREF_BIBR In at least 70% of children, Dravet syndrome is caused by a heterozygous mutation in the SCN1A gene, XREF_BIBR, XREF_BIBR encoding the alpha-subunit of the neuronal voltage gated sodium channel."

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"Dravet syndrome is a rare developmental epilepsy syndrome caused by autosomal dominant mutations in the SCN1A gene encoding the voltage gated sodium channel NaV1.1, and is characterized by intractable epilepsy, ID, and autism."

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"Dravet syndrome is a severe epileptic encephalopathy mainly caused by heterozygous mutations in the SCN1A gene encoding a voltage gated sodium channel Nav1.1."

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"Dravet syndrome (DS) is a neurodevelopmental genetic disorder caused by mutations in the SCN1A gene encoding the alpha subunit of the NaV1.1 voltage gated sodium channel that controls neuronal action potential firing."

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"Dravet Syndrome is a severe childhood epileptic disorder caused by haploinsufficiency of the SCN1A gene encoding brain voltage gated sodium channel Na V 1.1."

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"Type 3 (FHM3) is caused by a mutation in the SCN1A gene, encoding the alpha subunit of the neuronal voltage gated sodium channel Nav1.1."

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"It is mainly caused by mutations in SCN1A gene, encoding type 1 voltage gated sodium channel alpha-subunit (NaV1.1), and GABRA1 gene, encoding the alpha1 subunit of the gamma-aminobutyric acid type A (GABA A) receptor, while seldom related with SCN9A gene, encoding the voltage gated sodium channel NaV1.7."

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"Dravet Syndrome (DS) is a neurodevelopmental genetic disorder caused by mutations in the SCN1A gene encoding the subunit of the NaV1.1 voltage gated sodium channel that controls neuronal action potential firing."

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"In the majority (80%) of cases, Dravet Syndrome is caused by mutations in the SCN1A gene, encoding the voltage gated sodium channel Na V 1.1, which is abundant in the central nervous system."

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"BackgroundDravet syndrome, a severe childhood epilepsy characterized by persistent, often drug resistant seizures and progressive developmental delay is known to be caused by mutations in the SCN1A gene encoding the voltage gated sodium channel subunit alpha NA V 1.1."

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"Severe Myoclonic Epilepsy in Infancy (SMEI) is an intractable epileptic syndrome with onset in the first year of life and is commonly caused by de novo mutations in the SCN1A gene, encoding the alpha1-subunit of the neuronal voltage gated sodium channel."

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"It is mainly caused by mutations in SCN1A gene, encoding type 1 voltage gated sodium channel alpha-subunit (NaV1.1), and GABRA1 gene, encoding the alpha1 subunit of the gamma-aminobutyric acid type A (GABA A) receptor, while seldom related with SCN9A gene, encoding the voltage gated sodium channel NaV1.7."