Abstract
Introduction
Mutations in SCN1A have been reported in patients with different types of epilepsy, including generalized epilepsy with febrile seizures plus, severe myoclonic epilepsy in infancy, malignant migrating partial seizures in infancy, and other infantile epileptic encephalopathies.
Case report
We report a case of a 10-month-old girl presented with reflex epileptic seizures provoked by somatosensory stimuli with a novel de novo mutation of SCN1A gene. She was observed to have seizures with eye deviation, unresponsiveness provoked by somatosensory stimuli of the face. Video-electroencephalography (EEG) revealed generalized spike-and-wave patterns. She experienced one or two focal clonic seizures per month over the 6 months while taking valproate and carbamazepine. At 22 months old, she was hospitalized with an episode of generalized tonic clonic febrile status epilepticus lasting for 45 min. Interictal sleep video-EEG showed sharp-and-slow wave discharges in the left occipital lobe with normal background activity. We found a de novo heterozygote mutation in SCN1A gene, c.1337A>C (p. Q422P).
Conclusion
To our knowledge, this mutation has not been previously described in the SCN1A gene and this is the first report of epilepsy related to SCN1A mutation as a presenting with reflex epilepsy of somatosensory stimuli. This case report contributes to an expanding clinical spectrum of patients with SCN1A mutations.
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References
Lossin C (2009) A catalog of SCN1A variants. Brain and Development 31(2):114–130
Meng H, Xu HQ, Yu L, Lin GW, He N, Su T et al (2015) The SCN1A mutation database: updating information and analysis of the relationships among genotype, functional alteration, and phenotype. Hum Mutat 36(6):573–580
Hirose S, Scheffer IE, Marini C, De Jonghe P, Andermann E, Goldman AM et al (2013) SCN1A testing for epilepsy: application in clinical practice. Epilepsia 54(5):946–952
Chiron C, Dulac O (2013) The pharmacologic treatment of Dravet syndrome. Epilepsia 52(Suppl 2):72–75
Guerrini R, Cellini E, Mei D, Metitieri T, Petrelli C, Pucatti D et al (2010) Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene. Epilepsia 51:2474e7
Depienne C, Trouillard O, Gourfinkel-An I, Saint-Martin C, Bouteiller D, Graber D et al (2010) Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome. J Med Genet 47:404–410
Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P (2011) De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet 68(6):1327–1332
Marini C, Scheffer IE, Nabbout R, Suls A, De Jonghe P, Zara F et al (2011) The genetics of Dravet syndrome. Epilepsia 52(Suppl 2):24–29
Guerrini R, Oguni H (2011) Borderline Dravet syndrome: a useful diagnostic category? Epilepsia 52(Suppl 2):10–12
Specchio N, Marini C, Terracciano A, Mei D, Trivisano M, Sicca F et al (2011) Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations. Epilepsia 52:1251e7
Incorpora G (2009) Dravet syndrome. Ital J Pediatr 35(1):27
Ohashi T, Akasaka N, Kobayashi Y, Magara S, Kawashima H, Matsumoto N et al (2014) Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation. Epileptic Disorders 16(2):208–212
Striano P, Mancardi MM, Biancheri R, Madia F, Gennaro E, Paravidino R et al (2007) Brain MRI findings in severe myoclonic epilepsy in infancy and genotype phenotype correlations. Epilepsia 48:1092e6
Catarino CB, Liu JY, Liagkouras I, Gibbons VS, Labrum RW, Ellis R et al (2011) Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology. Brain 134:2982e3010
Takayanagi M, Haginoya K, Umehara N, Kitamura T, Numata Y, Wakusawa K et al (2010) Acute encephalopathy with a truncation mutation in the SCN1A gene: a case report. Epilepsia 51(9):1886–1888
Tang S, Lin JP, Hughes E, Siddiqui A, Lim M, Lascelles K (2011) Encephalopathy and SCN1A mutations. Epilepsia 52(4):e26–e30
Guerrini R (2012) Dravet syndrome: the main issues. Eur J Paediatr Neurol 16(Suppl 1):S1–S4
Shi XY, Tomonoh Y, Wang WZ, Ishii A, Higurashi N, Kurahashi H et al (2016) Efficacy of antiepileptic drugs for the treatment of Dravet syndrome with different genotypes. Brain and Development 38(1):40–46
Acknowledgements
This work was performed at the Izmir Tepecik Education and Research Hospital. There was no assistance or efforts beyond those of the primary authors. This work has not been presented or published elsewhere.
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Arican, P., Dundar, N.O., Cavusoglu, D. et al. Somatosensory reflex seizures in a child with epilepsy related to novel SCN1A mutation. Childs Nerv Syst 33, 677–680 (2017). https://doi.org/10.1007/s00381-016-3297-6
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DOI: https://doi.org/10.1007/s00381-016-3297-6