Neurodevelopmental profile at 5 years of a boy with Dravet syndrome– like phenotype: Does SCN1A gene have something in common?

Ralitsa Yordanova, Ivan Ivanov, Margarita Panova, Iglika Sotkova, Fani Galabova, Anelia Petkova, Neviana Ivanova, Irina Tzekova


A boy with Dravet-lile syndrome (DS) was examined with a neurodevelopmental test at 5 years of age and the most affected developmental domains were found to be coordination and perception. Two main hypothesis (channalopathy vs. epileptic encephalopathy) as pathogenеtic factors for the developmental impairment are discussed with the first one being more applicable in this case.

Full Text:



Hurst, D.L., Epidemiology of severe myoclonic epilepsy of infancy. Epilepsia, 1990. 31(4): p. 397-400.

Incorpora, G., Dravet syndrome. Ital J Pediatr, 2009. 35(1): p. 27.

Berg, A.T., et al., Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia, 2010. 51(4): p. 676-85.

Scheffer, I.E., Diagnosis and long-term course of Dravet syndrome. Eur J Paediatr Neurol, 2012. 16 Suppl 1: p. S5-8.

Marini, C., et al., The genetics of Dravet syndrome. Epilepsia, 2011. 52 Suppl 2: p. 24-9.

Genton, P., R. Velizarova, and C. Dravet, Dravet syndrome: the long-term outcome. Epilepsia, 2011. 52 Suppl 2: p. 44-9.

Guerrini, R. and H. Oguni, Borderline Dravet syndrome: a useful diagnostic category? Epilepsia, 2011. 52 Suppl 2: p. 10-2.

Kim, Y.O., et al., Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline. Dev Med Child Neurol, 2014. 56(1): p. 85-90.

Chieffo, D., et al., Early development in Dravet syndrome; visual function impairment precedes cognitive decline. Epilepsy Res, 2011. 93(1): p. 73-9.

Battaglia, D., et al., Outlining a core neuropsychological phenotype for Dravet syndrome. Epilepsy Res, 2016. 120: p. 91-7.

Chieffo, D., et al., Neuropsychological development in children with Dravet syndrome. Epilepsy Res, 2011. 95(1-2): p. 86-93.

Battaglia, D., et al., Cognitive decline in Dravet syndrome: is there a cerebellar role? Epilepsy Res, 2013. 106(1-2): p. 211-21.

Michelsson, K. and A. Linen, A neurodevelopmental screening examination for five‐year‐old children. Early Child Development and Care, 1987. 29(1): p. 9-22.

Ragona, F., Cognitive development in children with Dravet syndrome. Epilepsia, 2011. 52 Suppl 2: p. 39-43.

Ijff, D.M. and A.P. Aldenkamp, Cognitive side-effects of antiepileptic drugs in children. Handb Clin Neurol, 2013. 111: p. 707-18.

Brunklaus, A. and S.M. Zuberi, Dravet syndrome--from epileptic encephalopathy to channelopathy. Epilepsia, 2014. 55(7): p. 979-84.

Mulley, J.C., et al., SCN1A mutations and epilepsy. Hum Mutat, 2005. 25(6): p. 535-42.