Participate in a Dravet syndrome Genetic Study

Participate in a Dravet syndrome Genetic Study

The Genetic Investigation of Child Neurological Disorders Joseph Gleeson, M.D. And his team at UCSD seek to identify new causes of Dravet syndrome Who Can Help? Families with: prefer at least 2 members with epilepsy and at least one with Dravet syndrome (Also accepting Dravet participants without a family history of seizures) Dravet syndrome as a primary diagnosis and no SCN1A mutations found Epilepsy or Dravet syndrome must not be due to trauma, tumors, CNS infection, stroke, pregnancy or birth complications or othe environmental...

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Can Transplanted Neuronal Progenitor Cells Develop into Functioning Neurons

Epilepsy research is reaching beyond improving the means for quelling symptoms to the exploration of potential modalities for correcting or reversing alterations in neural function that underlay some forms of the disorder. In research reported at the 64th American Epilepsy Society (AES) Annual Meeting, investigators at the University of Florida have demonstrated that adult human neuronal progenitor cells (AHNPs) generate functional neurons that integrate into host neuronal networks in the cerebral cortex.

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When Does Dravet syndrome Occur?

We studied concordant and discordant monozygous twins with de novo mutations in the sodium channel a1 subunit gene (SCN1A) causing Dravet's syndrome, a sever epileptic encephalopathy

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Tomorrow Isn’t Soon Enough

Tomorrow Isn’t Soon Enough

This page hosts a link to download a power point file that uses illustrations, graphs, and charts to convey a collection of gathered information on Dravet syndrome from the science end of the causes, to the information that is available on current cases of the disease, prognosis and even some drug information.

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Case Study: Dravet Syndrome 20 yr. old patient

Case Study: Dravet Syndrome 20 yr. old patient

Dravet syndrome Case Study: 20 year old patient give Stiripentol, on alternative medications. This is a case study reflecting a Dravet syndrome consult by M Welborn, PharmD to a pediatric neurologist in the US. Name of child is changed. This factual case is for learning purposes only. Any changes to medication should be under the supervision of a healthcare professional.

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Dravet Testing Facilities

Dravet Testing Facilities

A listing of centers across the world that offer SCN1A testing for Dravet Syndrome.

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Child Neurology: Dravet Syndrome

Child Neurology: Dravet Syndrome

Early development is normal, but signs of regression appear in the second year of life and are often accompanied by convulsive status epilepticus, alternating hemiconvulsions, and myoclonic seizures. Diagnosis can be confirmed bygenetic testing that is now available, and shows mutations within the SCN1A gene. Early recognition and diagnosis of DS and management with appropriate anticonvulsants and treatment plan may reduce the seizure burden and improve long-term developmental outcome

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Genetic Testing Facilities

Genetic Testing Facilities

A listing of locations that run testing for Dravet Syndrome

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Dravet syndrome Case Study

Dravet syndrome Case Study

Dravet syndrome Pharmacotherapy Consultation 12/19/08 Michelle Welborn, PharmD Name: xxxxxxx Weight:  42 lbs (19 kg) S:  Per mother:  “My child currently weight 42 lbs, we tried the keto diet in winter – spring ’06 with no change in seizure control.  The seizures he has been having recently are a combination of eye fluttering, chin tucking in to chest, drooling, with occasional myoclonics.  He displays this activity for 10-15 sec and will continue about his routine, however, they are occurring every 3-5 minutes. Swiping...

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Stiripentol Use in Children with Ds

Stiripentol Use in Children with Ds

Stiripentol Use in Children with Dravet Syndrome Data Source: Dravet Syndrome Patient Registry July 2008 Number of completed surveys: 22 Number of children using stiripentol: 8 Michelle Welborn, PharmD September 2008 This research was generated by the preliminary Dravet syndrome patient registry launched in 2008 and was submitted to be used for application of Orphan Drug Designation for stiripentol in the United States. Stiripentol was granted Orphan Drug Designation in November 2008. Current age of child: Race: How long has your child been...

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Dravet Syndrome Research & Associated Physicians

Dravet Syndrome Research & Associated Physicians

1)       URL: http://www3.interscience.wiley.com/journal/119105547/abstract Associated physicians: Dr. Renzo Guerrini, Dr. Anna Belmonte: Institute of Child Neurology and Psychiatry, University of Pisa, Institute for Clinical Research Stella Maris Foundation, Calambrone, Pisa, Italy Dr. Charlotte Dravet , Dr. Pierre Genton: Centre Saint Paul, Marseille Dr.Anna Kaminska: Neuropédiatric, Hopital Saint-Vincent-de-Paul, Paris, France. Dr. Oliver Dulac: Neuropédiatric, Hopital Saint-Vincent-de-Paul, Paris, France, AND Institute of Child...

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Dravet syndrome Represented at NIH/NINDS meeting

Dravet syndrome Represented at NIH/NINDS meeting

NINDS, August 26-27, 2010 Michelle Welborn, PharmD Intractable Childhood Epilepsy Alliance (ICE) Mission: The mission of ICE is to advance identification, understanding, and cure for ion channel and other genetic epilepsies through a strategic alignment of advocacy groups, industry, government, academia, parents, and investors internationally. ICE holds Dravet syndrome as the highest priority for disease modification and cure. Perspective on Anti-epileptogenesis (AEG): Despite the growing number of causes of epilepsy, 70% of cases are deemed...

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