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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.   

Article Details

Author Biography

Mandeep Rana, Boston University School Of Medicine Boston Medical Center

Instructor Pediatrics

Boston University School Of Medicine

Departmen of Pediatrics

Divison of Pediatric Neurology and Sleep Medicin

Boston Medical Center.

How to Cite
Flynn, M. A., Douglass, L., Rana, M., Mian, A., & Milunsky, J. M. (2017). Deletion at 2q24.3-31.1 resulting in severe Epileptic Encephalopathy and Episodic Autonomic Storming. Journal of the International Child Neurology Association, 1(1).


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