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Abstract
We describe an 11.5-year-old male who has profound intellectual disability, treatment resistant epilepsy with temperature sensitive seizures, and paroxysms of autonomic storming, atypical brain magnetic resonance imaging, and microcephaly. He has a 5.7 Mb deletion at 2q24.3-31.1, which includes the SCN1A gene. This is the first report of periodic and recurrent autonomic storming associated with Dravet syndrome, which is both prevented and treated with clonidine. Comparison to other reported individuals with the same deletion and genotype-phenotype correlations are discussed.
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Copyright (c) 2017 Mandeep Rana
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References
[1] Dravet C, Bureau M. Benign myoclonic epilepsy in infancy. Adv Neurol 2005; 95:127-37.
[3] Depienne C, Trouillard O, Saint-Martin C, Gourfinkel-An I, Bouteiller D, Carpentier W, et al. Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. J Med Genet 2009; 46:183-91.
[4] Dravet C. The core Dravet syndrome phenotype. Epilepsia 2011; 52:3-9.
[5] Lei M, Jones SA, Liu J, Lancaster MK, Fung SS, Dobrzynski H, et al. Requirement of neuronal and cardiac-type sodium channels for murine sinoatrial node pacemaking. J Physiol 2004; 559:835–848.
[6] Maier SK, Westenbroek RE, Yamanushi TT, Dobrzynski H, Boyett MR, Catterall WA, et al. An unexpected requirement for brain-type sodium channels for control of heart rate in the mouse sinoatrial node. Proc Natl Acad Sci 2003; 100:3507–3512.
[7] Delogu AB, Spinelli A, Battaglia D, Dravet C, De Nisco A, Saracino A, et al. Electrical and autonomic cardiac function in patients with Dravet syndrome. Epilepsia 2011; 52:55–58.
[8] Striano P, Mancardi MM, Biancheri R, Madia F, Gennaro E, Paravidino R, et al. Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations. Epilepsia 2007; 48:1092-6.
[9] VanLandingham KE, Heinz ER, Cavazos JE, Lewis DV. Magnetic resonance imaging evidence of hippocampal injury after prolonged focal febrile convulsions. Ann Neurol 1998; 43:413–426.
[10] Guerrini R, Striano P, Catarino C, Sisodiya SM. Neuroimaging and neuropathology of Dravets Syndrome. Epilepsia 2011; 52:30-34.
[11] Suls A, Claeys KG, Goossens D, Harding B, Van Luijk R, Scheers S. Microdeletions involving the SCN1A gene may be common in SCN1A-mutation- negative SMEI patients. Hum Mutat 2006; 27:914-920.
[12] Davidsson J, Collin A, Olsson ME, Lundgren J, Soller M. Deletion of the SCN gene cluster on 2q24.4 is associated with severe epilepsy: an array-based genotype-phenotype correlation and a comprehensive review of previously published cases. Epilepsy Res 2008;81:69-79.
[13] Marini C, Scheffer IE, Nabbout R, Mei D, Cox K, Dibbens LM, et al. SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. Epilepsia 2009;50:1670-8.
[14] Fountain-Capal JK, Holland KD, Gilbert DL, Hallinan BE. When should clinicians order genetic testing for Dravet syndrome? Pediatr Neurol 2011; 45:319-23.
[15] Barbieri AM, Filopanti M, Bua G, Beck-Peccoz P. Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis. J Hum Genet 2007; 52:464-468.
[16] Wang Y, O’Connell JR, McArdle PF, Wade JB, Dorff SE, Shah SJ. From the Cover: Whole-genome association study identifies STK39 as a hypertension susceptibility gene. Proc Natl Acad Sci USA 2009; 106:226-31.
[17] Ramoz N, Caj G, Reichert JG, Silverman JM, Buxbaum JD. An analysis of candidate autism loci on chromosome 2q24-q33: evidence for association to the STK39 gene. Am J Med Genet B Neuropsychiatr Genet 2008; 147B:1152-8.
[18] Scheimann AO, Strautnieks SS, Knisely AS, Byrne JA, Thompson RJ, Finegold MJ. Mutations in bile salt export pump (ABCB11) in two children with progressive familial intrahepatic cholestasis and cholangiocarcinoma. J Pediatr 2007; 150:556-55
References
[1] Dravet C, Bureau M. Benign myoclonic epilepsy in infancy. Adv Neurol 2005; 95:127-37.
[3] Depienne C, Trouillard O, Saint-Martin C, Gourfinkel-An I, Bouteiller D, Carpentier W, et al. Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. J Med Genet 2009; 46:183-91.
[4] Dravet C. The core Dravet syndrome phenotype. Epilepsia 2011; 52:3-9.
[5] Lei M, Jones SA, Liu J, Lancaster MK, Fung SS, Dobrzynski H, et al. Requirement of neuronal and cardiac-type sodium channels for murine sinoatrial node pacemaking. J Physiol 2004; 559:835–848.
[6] Maier SK, Westenbroek RE, Yamanushi TT, Dobrzynski H, Boyett MR, Catterall WA, et al. An unexpected requirement for brain-type sodium channels for control of heart rate in the mouse sinoatrial node. Proc Natl Acad Sci 2003; 100:3507–3512.
[7] Delogu AB, Spinelli A, Battaglia D, Dravet C, De Nisco A, Saracino A, et al. Electrical and autonomic cardiac function in patients with Dravet syndrome. Epilepsia 2011; 52:55–58.
[8] Striano P, Mancardi MM, Biancheri R, Madia F, Gennaro E, Paravidino R, et al. Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations. Epilepsia 2007; 48:1092-6.
[9] VanLandingham KE, Heinz ER, Cavazos JE, Lewis DV. Magnetic resonance imaging evidence of hippocampal injury after prolonged focal febrile convulsions. Ann Neurol 1998; 43:413–426.
[10] Guerrini R, Striano P, Catarino C, Sisodiya SM. Neuroimaging and neuropathology of Dravets Syndrome. Epilepsia 2011; 52:30-34.
[11] Suls A, Claeys KG, Goossens D, Harding B, Van Luijk R, Scheers S. Microdeletions involving the SCN1A gene may be common in SCN1A-mutation- negative SMEI patients. Hum Mutat 2006; 27:914-920.
[12] Davidsson J, Collin A, Olsson ME, Lundgren J, Soller M. Deletion of the SCN gene cluster on 2q24.4 is associated with severe epilepsy: an array-based genotype-phenotype correlation and a comprehensive review of previously published cases. Epilepsy Res 2008;81:69-79.
[13] Marini C, Scheffer IE, Nabbout R, Mei D, Cox K, Dibbens LM, et al. SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. Epilepsia 2009;50:1670-8.
[14] Fountain-Capal JK, Holland KD, Gilbert DL, Hallinan BE. When should clinicians order genetic testing for Dravet syndrome? Pediatr Neurol 2011; 45:319-23.
[15] Barbieri AM, Filopanti M, Bua G, Beck-Peccoz P. Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis. J Hum Genet 2007; 52:464-468.
[16] Wang Y, O’Connell JR, McArdle PF, Wade JB, Dorff SE, Shah SJ. From the Cover: Whole-genome association study identifies STK39 as a hypertension susceptibility gene. Proc Natl Acad Sci USA 2009; 106:226-31.
[17] Ramoz N, Caj G, Reichert JG, Silverman JM, Buxbaum JD. An analysis of candidate autism loci on chromosome 2q24-q33: evidence for association to the STK39 gene. Am J Med Genet B Neuropsychiatr Genet 2008; 147B:1152-8.
[18] Scheimann AO, Strautnieks SS, Knisely AS, Byrne JA, Thompson RJ, Finegold MJ. Mutations in bile salt export pump (ABCB11) in two children with progressive familial intrahepatic cholestasis and cholangiocarcinoma. J Pediatr 2007; 150:556-55