Scheffer IE, Berkovic SF. Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes.Brain. 1997 Mar;120 ( Pt 3):479-90. doi: 10.1093/brain/120.3.479. PMID: 9126059.
Abou-Khalil B, et al. Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation. Neurology. 2001 Dec 26;57(12):2265-72. doi: 10.1212/wnl.57.12.2265. PMID: 11756608.
Dravet C. Dravet syndrome history. Dev Med Child Neurol. 2011 Apr;53 Suppl 2:1-6. doi: 10.1111/j.1469-8749.2011.03964.x. PMID: 21504424.
Claes L, et al. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.Am. J. Hum. Genet. 68: 1327-1332, 2001. PMID: 11359211.
Yu FH, et al. Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy.Nature Neurosci. 9: 1142-1149, 2006. Note: Erratum: Nature Neurosci. 10: 134 only, 2007. PMID: 16921370.
Ogiwara I, et al.Na(v)1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation.J. Neurosci. 27: 5903-5914, 2007. PMID: 17537961.
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Where can parents and healthcare providers find more information and supportive resources for those living with SCN1A-related disorders?
The following links contain useful information:
• Dravet Syndrome Foundation (US): www.dravetfoundation.org
o Expert Diagnosis and Treatment Guidelines for Dravet Syndrome: https://dravetfoundation.org/hcp-resources/diagnosis-and-treatment/
o Dravet Syndrome Foundation Family Network: https://dravetfoundation.org/caregiver-resources/dsf-family-network/
• Dravet Syndrome United Kingdom: https://www.dravet.org.uk/
• Dravet Syndrome European Federation: https://dravet.eu/members-map/
• Dravet Canada: https://dravet.ca/
• Dravet Syndrome Japan: https://dravetsyndromejp.org/
• Dravet Mexico: https://www.facebook.com/share/g/1Dpjifz8mG/
• Israeli Dravet Group: https://www.dravet.co.il/
• NDEEMA/SCN1A Gain of Function Caregiver Support Group: phttps://www.facebook.com/groups/551079506722748/
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