Dravet Syndrome Won Compassionate Allowance Recognition

Dravet Syndrome Won Compassionate Allowance Recognition

Commissioner Astrue held an event at the Hart Senate Building at 10:00 a.m in Washington, DC to commemorate the milestone of reaching 200 Compassionate Allowances conditions. The newest of these conditions is a rare disease called Dravet Syndrome. ICE Alliance was a key participant in the presentations at the public hearings to win this recognition for Dravet Syndrome.

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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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Hope In Action

Hope In Action

Novel Compound Designed to Increase Protein Expression in SCN1A loss of function Mutations •More than 700 mutations of the Scn1a gene have been identified making this the most commonly mutated gene in human epilepsy. •More than 50% of these mutations result in a truncated protein clearly demonstrating haploinsufficiency of SCN1A as a cause of Dravet Syndrome. This means the mutation leads to a loss of function due to a premature stop codon (frameshift, nonsense, splice site, deletion, microdeletion)

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Vision 20/20 Task Force

Vision 20/20 Task Force

ICE Epilepsy Alliance is a member of the American Epilepsy Society’s Vision 20/20 Task Force, a group of advocacy groups committed to improve the lives of patients with epilepsy. At the request of the Department of Health and Human Services Office of the Assistant Secretary for Planning and Evaluation, the National Institutes of Health, and Vision 20/20 the Institute of Medicine will convene an ad hoc committee to reco

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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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Ion Channel Epilepsies

Ion Channel Epilepsies

A downloadable PDF At the end of the presentation, participants should be able to: Describe what is intractable childhood epilepsy Understand the mutations that occur to the ion channels Explain the benefits of genetic testing

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Dravet syndrome International Patient Registry

Dravet syndrome International Patient Registry

The genetic basis of pediatric epilepsy syndromes is receiving increasing attention as known seizure propagating gene mutations are identified and genetic testing is commercially available. Dravet syndrome, or severe myoclonic epilepsy of infancy (SMEI), is an epileptic encephalopathy caused by a mutation in the SCN1A gene in 80% of children affected.

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When to Suspect an SCN1A Mutation Related Epilepsy

When to Suspect an SCN1A Mutation Related Epilepsy

Focal Epilepsy, Generalized Epilepsy, Lennox-Gastaut Diagnosis, Atypical Febrile Seizures and Epilepsy of Unknown Cause Beginning in Children < 1 year old:  When to Suspect an SCN1A mutation related epilepsy A clinical study published in Brain 2007 (Harkin et al) reported from a multi-national study of 188 patients with epileptic encephalopathies (epilepsy with brain dysfunction) that 24% patients diagnosed with cryptogenic focal epilepsy and 22% patients diagnosed with cryptogenic generalized epilepsy had an SCN1A mutation , thus were...

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Dravet syndrome as Presented to NORD

Dravet syndrome as Presented to NORD

Dravet syndrome Michelle Welborn, PharmD written for:  National Organization for Rare Diseases March 2009 Synonyms of Dravet syndrome Severe Myoclonic Epilepsy in Infancy (SMEI) Polymorphic Epilepsy in Infancy (PMEI) Epilepsy with polymorphic seizures Disorder Subdivisions Febrile Seizures Genetic Epilepsy with Febrile Seizures Plus (GEFS+) – formerly Generalized Epilepsy with Febrile Seizures Plus Severe Myoclonic Epilepsy Borderline (SMEB) Intractable Childhood Epilepsy with Generalized Tonic Clonic Seizures...

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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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Stop the Status

Stop the Status

Improving Outcomes in Pediatric Epilepsy Syndromes Overview -Seizures and Epilepsy Syndromes –Seizure Emergencies –Febrile Seizures Seizure Epilepsy Syndrome Facts •2.5 million Americans have epilepsy (defined as 2 or more unprovoked seizures)

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My Child Has Dravet – Now What?

My Child Has Dravet – Now What?

Find a child neurologist that has experience in Dravet syndrome. Check out the Dravet syndrome article page with links to articles. The physicians listed are experienced in treating Dravet syndrome. To locate an epilepsy center in the US

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