dravet syndome

[vmagill]

hi all, it's been a while since i last posted here- my 15 mos daughter, Brooke, just got dx w/ dravet syndrome or severe myoclonic epilepsy of infancy- dravet syndrome is an intractable epilepsy(all seizure types), with secondary cognitive and motor imparement- never give up on trying to figfht for more test- after fired 2 nueros, we got the very last one who listened to us about her different types of sz and we went on to have her blood test- now with the new dx, at least we know what we're dealing with- though the prognosis is very poor- thanks you - nina

 

[Bernard]

I wish Brooke all the best. It's good that you persevered until you got a competent doc and diagnosis.

 

[Dutch mom]

Hello Nina,

I know many children with Dravet's syndrome (SMEI), most of them Dutch kids (their parents are members of our Dutch forum/contact group for parents of kids with one of the known intractable epilepsy syndromes & difficult to control types of epilepsy.) Allthough the prognosis about controlling the seizures is poor, 'our' kids with Dravet are very, very different in level of mental and motor development (walking, talking, learning etc.).

Dravet's syndrome sometimes is well controled in 'our kids' with Topamax (usually combined with valporate and/or clobazam) and especially with a new drug called with Stiripentol. Lamictal tends to worsen seizures in Dravet's syndrome.

Dutch mom of a 9-year old son with Lennox Gastaut syndrome (since 4 years on the ketogenic diet and med free)

 

[Dutch mom]

Hello Nina,

I've copied these links from our forum archives; they might be interesting for you.

By one of our members, dad of a son with Dravet
http://www.dravet.com/ (English version available)

http://health.groups.yahoo.com/group/SMEI/

http://www.idea-league.org/

http://highwire.stanford.edu/cgi/medline/pmid;17621480

http://www.search.com/reference/Stiripentol

http://www.expertopin.com/doi/abs/10.1517/13543784.14.7.905?cookieSet=1&journalCode=eid

A Screening test for the prediction of Dravet syndrome before one year of age

Hattori J, Ouchida M, Ono J, Miyake S, Maniwa S, Mimaki N, Ohtsuka Y, Ohmori I.
Department of Child Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Okayama, Japan.

Purpose:
Our aim was to develop a screening test to predict Dravet syndrome before the first birthday based on the clinical characteristics of infants and the SCN1A mutation analysis.

Methods:
Ninety-six patients who experienced febrile seizures before the age of one were enrolled. The patients were divided into two groups-the Dravet syndrome group (n = 46) and the non-Dravet syndrome group (n = 50). We compared the clinical characteristics before one year of age of the two groups. We analyzed all coding exons of the SCN1A gene by the direct sequencing method. Scores from 0 to 3 were assigned to
each risk factor based on the odds ratio and p-value.

Results:
An age of onset of febrile seizure </= 7 months, a total number of seizures >/= 5, and prolonged seizures lasting more than 10 min. were regarded as significant risk factors for Dravet syndrome. Other factors highly predictive of this syndrome were hemiconvulsions, partial seizures, myoclonic seizures, and hot water-induced seizures. A total clinical score of six or above was the cutoff value indicating a high risk of
Dravet syndrome. SCN1A missense and truncated mutations were detected significantly more often in the Dravet syndrome group than in the non-Dravet syndrome group.

Discussion:
This simple screening test was designed to be used by general diatricians. It could help to predict Dravet syndrome before one year of age. If the sum of the clinical risk score is >/= 6, then the performance of an SCN1A mutation analysis is recommended.

PMID: 18076640 [PubMed - as supplied by publisher]