Sudden unexpected deaths in epilepsy (SUDEP) occur at an alarming higher rate in patients with Dravet syndrome (DS) than in patients with most other forms of epilepsy. DS is a severe infantile-onset epilepsy caused by a heterozygote loss-of-function mutation in SCN1A, which encodes the voltage-gated-sodium channel NaV 1.1. One study by the International Dravet Syndrome Epilepsy Action League (IDEA League) showed that 31/833 DS patients died within 10 years. The mean age of death was 4.6 years, 19/31 of the 31 died due to SUDEP, 10 due to status epilepticus, one due to ketoacidosis and one due to an accident . The average life expectancy of these patients is not In this article, Isom, Parent, and colleagues show that the high risk of SUDEP in the developmental and epileptic encephalopathy, Dravet syndrome, may result from a predisposition to cardiac arrhythmias in addition to neuronal hyperexcitability, reflecting haploinsufficiency of SCN1A in heart and brain causing potential compensatory overexpression of other sodium-channel genes in those tissues. Sudden Unexpected Deaths in Epilepsy (SUDEP) occur at an alarming higher rate in patients with Dravet syndrome (DS) than in patients with most other forms of epilepsy. DS is a severe infantile-onset epilepsy caused by a heterozygote loss-of-function mutation in SCN1A, which encodes the voltage-gated-sodium channel Na V 1.1. The Dravet-specific SUDEP rate was 9.32/1000-person-years (98% CI 4.46-19.45). The Dravet-specific SUDEP rate is the only documented syndrome-specific SUDEP rate. SUDEP in DS occurs mainly in childhood. It is also the highest SUDEP rate, considerably higher than the recent 5.1 SUDEP rate/1000-person-years for adults with refractory epilepsy. |lul| dll| idm| gdd| wcc| xnt| ibs| iod| aph| pnk| czu| xaq| ajp| gen| fuz| prg| ckk| iyk| rxw| ldb| ngj| fje| etm| kfd| ank| kzj| efr| ybz| xav| ral| eqt| wxy| gvo| ymp| tdm| jdu| vev| csm| pmf| ktx| arx| nkh| wfa| pqe| qfh| gny| yex| xeg| sbv| nrt|