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International Registry of Dravet Syndrome and other Syndromes correlated with genes on SCN1A and PCDH19

Epag Epicare Professor Helen Cross’s blog post on the impact of Brexit in relation to providing care for patients with rare and complex epilepsies is now available online at the following link. It is in line with the Brexit Health Campaign on ...
Nuovi LEA 2017: ecco la Guida alle esenzioni per le malattie rare La prima testata e agenzia giornalistica completamente dedicata alle malattie rare e ai tumori rari.
Pubblication around Dravet Syndrome and Drug Resistant Epilepsy shared a link.
L'Inps lancia una rivoluzione nella certificazione per i bambini Debutta a settembre il certificato specialistico pediatrico, grazie a un accordo sperimentale fra Inps, Sip e gli ospedali Bambino Gesù, Meyer e Gaslini. L'Inps lo utilizzerà come documento esaustivo per la valutazione medico legale, risparmiando al minore ulteriori visite, esami ...
ILAE Lifetime Awards - Charlotte - International League Against Epilepsy The International League Against Epilepsy (ILAE) is the world's preeminent association of physicians and other health professionals working toward a world where no person's life is limited by Epilepsy. Its mission is to provide the highest quality of care and ...
Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome — NEJM Original Article from The New England Journal of Medicine — Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome
Pubblication around Dravet Syndrome and Drug Resistant Epilepsy shared a link.
GW Pharmaceuticals Files for FDA Approval After Report Confirms Success in Treating Epilepsy – High... just published results from a Phase III study showing that GW’s Epidiolex (derived from cannabidiol) significantly reduced monthly convulsive seizures, especially in children with
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GW Pharmaceuticals and its U.S. Subsidiary Greenwich Biosciences Announce Publication of Groundbreaking Study of Epidiolex®... GW Pharmaceuticals and its U.S. Subsidiary Greenwich Biosciences Announce Publication of Groundbreaking Study of Epidiolex® (cannabidiol) in The New England Jo
Pubblication around Dravet Syndrome and Drug Resistant Epilepsy shared a link.
GW Pharmaceuticals and its U.S. Subsidiary Greenwich Biosciences Announce Publication of Groundbreaking Study of Epidiolex®... GW Pharmaceuticals and its U.S. Subsidiary Greenwich Biosciences Announce Publication of Groundbreaking Study of Epidiolex® (cannabidiol) in The New England Jo
Pubblication around Dravet Syndrome and Drug Resistant Epilepsy shared a link.
Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome — NEJM Original Article from The New England Journal of Medicine — Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome
Pubblication around Dravet Syndrome and Drug Resistant Epilepsy shared a link.
Epilessia e disabilità intellettiva: scoperto nuovo meccanismo molecolare http://www.saluteh24.com/il_weblog_di_antonio/2017/05/epilessia-e-disabilit%C3%A0-intellettiva-scoperto-nuovo-meccanismo-molecolare-.html?utm_source=feedburner&utm_medium=feed&utm_campaign=Feed%3A+IlWeblogDiAntonio+%28Il+Weblog+di+Antonio+Caperna%29#.WSKcihPFSo0.facebook
Epilessia e disabilità intellettiva, patologie che si manifestano spesso in età infantile, sono in alcuni casi causate da mutazioni genetiche riguardanti il gene Kiaa1202, che contiene le informazioni per produrre la proteina Shrm4. Uno studio internazionale pubblicato sulla rivista ...
Dai trust alle agevolazioni, i notai presentano la guida sul «Dopo di noi» I notai hanno deciso di pubblicare una guida per il cittadino e sabato 27 maggio in 61 città italiane organizzeranno un Open day per la tutela delle fragilità sociali
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Protein Found That May Improve Epilepsy Patients’ Response to Therapies - EpilepsyU http://epilepsyu.com/blog/protein-found-may-improve-epilepsy-patients-response-therapies/
A protein that may help epilepsy patients respond better to drug therapies has been identified, a new study suggests. The study, titled “Molecular isoforms of high-mobility group box 1 are mechanistic biomarkers for epilepsy,” was published in the The Journal ...
Unexpected Efficacy of a Novel Sodium Channel Modulator in Dravet Syndrome http://www.nature.com/articles/s41598-017-01851-9
Dravet syndrome, an epileptic encephalopathy affecting children, largely results from heterozygous loss-of-function mutations in the brain voltage-gated sodium channel gene SCN1A. Heterozygous Scn1a knockout (Scn1a +/−) mice recapitulate the severe epilepsy phenotype of Dravet syndrome and are an ac...
Nuovo position paper di EURORDIS sull’uso compassionevole dei farmaci I programmi d’uso compassionevole possono salvare la vita dei malati offrendo un accesso precoce a nuovi farmaci promettenti
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Biscayne Readies Phase 1b Trial for Novel Antiepileptic Agent BIS-001 and Receives FDA Orphan Drug... MIAMI, May 9, 2017 /PRNewswire/ -- Biscayne Neurotherapeutics, Inc., a clinical-stage company developing novel...
Pubblication around Dravet Syndrome and Drug Resistant Epilepsy shared a link.
Dravet syndrome: a new causative SCN1A mutation? - PubMed - NCBI Clin Case Rep. 2017 Mar 18;5(5):613-615. doi: 10.1002/ccr3.787. eCollection 2017.
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La vitamina D modula il sistema immunitario modificando il microbiota intestinale http://microbioma.it/immunologia/la-vitamina-d-modula-il-sistema-immunitario-modificando-il-microbiota-intestinale/
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Epygenix Therapeutics Receives Orphan Drug Designation From the U.S. FDA for EPX-100 and EPX-200 in... PARAMUS, N.J., April 25, 2017 /PRNewswire/ -- Epygenix Therapeutics, Inc., a privately held biopharmaceutical company...
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Understanding the SCN2A mystery – therapeutic responses in a heterogeneous disease Heterogeneity. The diversity of clinical presentations and responses to anti-epileptic drugs (AEDs) has posed a major obstacle in developing strategies to treat patients with SCN2A-related epilepsi…
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Sindrome di Dravet, grave tipo di epilessia pediatrica speranza di fase 3 dal cannabidiolo Un estratto dalla marijuana in soluzione liquida cannabidiolo o CBD per il trattamento della sindrome di Dravet ha dato risultati positivi nella prima fase pilota di uno studio di fase 3. Lo ha annunciato la societ biofarmaceutica produttrice GW Pharmaceuticals ...
Reti di riferimento europee: “Le implicazioni saranno enormi, non solo per i pazienti, ma anche... La prima testata e agenzia giornalistica completamente dedicata alle malattie rare e ai tumori rari.
Pubblication around Dravet Syndrome and Drug Resistant Epilepsy shared a link.
CNBC This high-tech sticker for babies could save their lives. TempTraq

http://bit.ly/1PZXGW5
Pubblication around Dravet Syndrome and Drug Resistant Epilepsy shared CNBC's video.
Nuovi Lea, Osservatorio Malattie Rare: “Non confondere perfezionamento di un iter con la soddisfazione dei... La prima testata e agenzia giornalistica completamente dedicata alle malattie rare e ai tumori rari.
Pubblication around Dravet Syndrome and Drug Resistant Epilepsy shared a link.
Gazzetta Ufficiale E’ ufficiale, i nuovi LEA sono stati pubblicati sulla Gazzetta Ufficiale!!!

La Sindrome di Dravet è stata riconosciuta come malattia rara, e la nomenclatura è RF0061!

La trovate alla pagina 7 dell’Allegato 7 del "DECRETO DEL PRESIDENTE DEL CONSIGLIO DEI ...
A novel inherited SCN1A mutation associated with GEFS+ in benign and encephalopathic epilepsy. - PubMed... J Clin Neurosci. 2017 Mar 2. pii: S0967-5868(16)31250-4. doi: 10.1016/j.jocn.2017.02.011. [Epub ahead of print]
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Genetics of Migraine: Insights into the Molecular Basis of Migraine Disorders. - PubMed - NCBI Headache. 2017 Mar 8. doi: 10.1111/head.13053. [Epub ahead of print] Review
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OPKO Receives EU Orphan Drug Status for its New Oligonucleotide to Treat Genetic Neurological Disorder ... designating OPKO's oligonucleotide-based AntagoNAT (CUR-1916) an orphan medicinal product under Regulation (EC) No 141/2000 for the treatment of Dravet Syndrome.  An Orphan Drug Application is under review by the
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Research Update on Epilog Patch from Epitel, Inc. Mark Lehmkuhle PhD provides an update for epilepsy.com on the development of Epilog, a discreet and waterproof EEG patch that records seizures over a period of seven days. An innovation in EEG technology, Epilog can be worn anywhere on the ...
Zebrafish-to-Patient Approach Speeds Search for Childhood Epilepsy Treatments In an unprecedented leap from lab to patients, a potential treatment for childhood epilepsy identified in experiments with zebrafish.
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