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Objective: Early infantile epileptic encephalopathy type11 (EIEE) generally known as an autosomal dominant inherited disease caused by the voltage-gated sodium channel neuronal type 2 alpha subunit (Navα1.2) encoded by the SCN2A gene mutations. The clinic of the disease is variable. Herein we report the second case with a homozygous missense mutation of the SCN2A gene (c.1588 G>T).
Material and methods: NGS gene panel including the SCN2A gene from genomic DNA extracted from peripheral blood using a commercially available kit and quantified using standard methods. Illumina miseq analysis platform was used for this purpose, we performed analysis of coding regions and exon-intron boundaries and the data was analyzed by IGV.
Results: The results confirmed by sanger sequencing show us an SCN2A (NM_001040142) c.1588 G>T homozygote mutation.
Conclusion: This shows us more clinical and molecular studies need for SCN2A associated disease pathogenesis
Shevell MI, Sinclair D, Metrakos K. Benign familial neonatal seizures: clinical and electroencephalographic characteristics. Pediatric neurology. 1986;2(5):272-5.
Berkovic SF, Heron SE, Giordano L, Marini C, Guerrini R, Kaplan RE, et al. Benign familial neonatal‐infantile seizures: characterization of a new sodium channelopathy. Annals of neurology. 2004;55(4):550-7.
Kaplan RE, Lacey DJ, Opitz JM. Benign familial neonatal‐infantile seizures. American journal of medical genetics. 1983;16(4):595-9.
Kamiya K, Kaneda M, Sugawara T, Mazaki E, Okamura N, Montal M, et al. A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline. Journal of Neuroscience. 2004;24(11):2690-8.
Ogiwara I, Ito K, Sawaishi Y, Osaka H, Mazaki E, Inoue I, et al. De novo mutations of voltage-gated sodium channel αII gene SCN2A in intractable epilepsies. Neurology. 2009;73(13):1046-53.
Liao Y, Anttonen A-K, Liukkonen E, Gaily E, Maljevic S, Schubert S, et al. SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain. Neurology. 2010;75(16):1454-8.
Hackenberg A, Baumer A, Sticht H, Schmitt B, Kroell-Seger J, Wille D, et al. Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene. Neuropediatrics. 2014;45(04):261-4.
Baasch AL, Hüning I, Gilissen C, Klepper J, Veltman JA, Gillessen‐Kaesbach G, et al. Exome sequencing identifies a de novo SCN 2 A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities. Epilepsia. 2014;55(4):e25-e9.
AlSaif S, Umair M, Alfadhel M. Biallelic SCN2A Gene Mutation Causing Early Infantile Epileptic Encephalopathy: Case Report and Review. Journal of central nervous system disease. 2019;11:1179573519849938.