Bibliography

1/ Breaking news

Genetics

Disease

Hatini PG, Commons KG (2019). Serotonin abnormalities in Dravet syndrome mice before and after the age of seizure onset. Brain research, 1724:146399.

Reaven NL, Funk SE, Lyons PD, Story TJ (2019). The direct cost of seizure events in severe childhood-onset epilepsies: A retrospective claims-based analysis. Epilepsy Behavior, 93:65-72.

Nabbout R, Auvin S, Chiron C, Irwin J, Mistry A, Bonner N, … (2018). Development and content validation of a preliminary core set of patient- and caregiver-relevant outcomes for inclusion in a potential composite endpoint for Dravet Syndrome. Epilepsy Behav, 78:232-242.

Teran FA, Kim Y, Crotts MS, Bravo E, Emaus KJ, Richerson GB (2019). Time of Day and a Ketogenic Diet Influence Susceptibility to SUDEP in Scn1a R1407X/+ Mice. Front Neurol, 10:278.

Strzelczyk A, Schubert-Bast S, Bast T, Bettendorf U, Fiedler B, Hamer HM,… (2019). A multicenter, matched case-control analysis comparing burden-of-illness in Dravet syndrome to refractory epilepsy and seizure remission in patients and caregivers in Germany. Epilepsia.

Ruffolo G, Cifelli P, Roseti C, Thom M, van Vliet EA, Limatola C,…(2018). A novel GABAergic dysfunction in human Dravet syndrome. Epilepsia, 59(11):2106-2117.

Haginoya K, Togashi N, Kaneta T, Hino-Fukuyo N, Ishitobi M, Kakisaka Y,…(2018). [18F]fluorodeoxyglucose-positron emission tomography study of genetically confirmed patients with Dravet syndrome. Epilepsy Research,147:9-14.

de Lange IM, Gunning B, Sonsma ACM, van Gemert L, van Kempen M, Verbeek NE,…(2019). Outcomes and comorbidities of SCN1A-related seizure disorders. Epilepsy and Behavior, 90:252-259.

Verheyen K, Verbecque E, Ceulemans B, Schoonjans AS, Van De Walle P, Hallemans A. (2019). Motor development in children with Dravet syndrome. Developmental Medicine Child Neurology.

Aliesha Griffin, Kyla R. Hamling, SoonGweon Hong, Mana Anvar, Luke P. Lee, and Scott C. Baraban (2018). Preclinical Animal Models for Dravet Syndrome: Seizure Phenotypes, Comorbidities and Drug Screening.Frontiers in pharmacology, 9: 573.   

Esterhuizen AI, Mefford HC, Ramesar RS, Wang S, Carvill GL, Wilmshurst JM (2018). Dravet syndrome in South African infants: Tools for an early diagnosis. Seizure, 62:99-105.

Auvin S, Jeljeli M, Desnous B, Soussi-Yanicostas N, Dournaud P & Sterkers G. Altered vaccine-induced immunity in children with Dravet syndrome. Epilepsia, 59(4):e45-e50.

Tian X, Ye J, Zeng Q, Zhang J, Yang X, … & Zhang Y (2018). The clinical outcome and neuroimaging of acute encephalopathy after status epilepticus in Dravet syndrome. Developmental Medicine and Child Neurology.

He N, Li BM, Li ZX, Wang J, Liu XR, … & Liao W (2018). Few individuals with Lennox-Gastaut syndrome have autism spectrum disorder: a comparison with Dravet syndrome. Journal of Neurodevelopmental disorders, 10(1):10.

Whittington MD, Knupp KG, Vanderveen G, Kim C, Gammaitoni A & Campbell JD (2018). The direct and indirect costs of Dravet Syndrome. Epilepsy & Behavior, 80:109-113.

Aljaafari D, Fasano A, Nascimento FA, Lang AE & Andrade DM (2017). Adult motor phenotype differentiates Dravet syndrome from Lennox-Gastaut syndrome and links SCN1A to early onset parkinsonian features. Epilepsia, 58(3):e44-e48.

Wirrell EC, Laux L, Donner E, Jette N, Knupp K, Meskis MA, … Berg AT (2017). Optimizing the Diagnosis and Management of Dravet Syndrome: Recommendations From a North American Consensus Panel. Pediatric Neurology, 68, 18-34.

Turner SJ, Brown A, Arpone M, Anderson V, Morgan AT & Scheffer IE (2017). Dysarthria and broader motor speech deficits in Dravet syndrome. American Academy of Neurology, 88(8):743-749.

Verbeek N, Kasteleijn-Nolst Trenité D, Wassenaar M, Van Campen J, Sonsma A & Brilstra E (2017). Photosensitivity in Dravet syndrome is under-recognized and related to prognosis. Clinical Neurophysiology, 128(2):323-330.

Losito E, Kuchenbuch M, Chemaly N, Laschet J, Chiron C, Kaminska A & Nabbout R (2017). Age-related « Sleep/nocturnal » tonic and tonic clonic seizure clusters are underdiagnosed in patients with Dravet Syndrome. Epilepsy & behavior, 74:33-40.

Licheni SH, Mcmahon JM, Schneider AL, Davey MJ & Scheffer IE (2017). Sleep problems in Dravet syndrome: a modifiable comorbidity. Developmental medicine & Child neurology.

Kim Y, Bravo E, Thirnbeck CK, Smith-Mellecker LA, Kim SH, Gehlbach BK, … Richerson GB (2018). Severe peri-ictal respiratory dysfunction is common in Dravet syndrome. The Journal of Clinical Investigation.

Cetica, V., Chiari, S., Mei, D., Parrini, E., Grisotto, L., Marini, C., … Guerrini, R. (2017). Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations. Neurology.

Aljaafari, D., Fasano, A., Nascimento, F.A., Lang, A.E., & Andrade, D.M. (2017). Adult motor phenotype differentiates Dravet syndrome from Lennox-Gastaut syndrome and links SCN1A to early onset parkinsonian features. Epilepsia, 58(3), e44-e48.

Gataullina, S. & Dulac, O. (2017). From genotype to phenotype in Dravet disease. Seizure, 44, 58-64.

Treatments

Wirrell EC, Nabbout R (2019). Recent Advances in the Drug Treatment of Dravet Syndrome. CNS Drugs, 33(9):867-881.

Frampton JE (2019). Stiripentol: A Review in Dravet Syndrome. Drugs, 79(16):1785-1796.

Rosati A, Boncristiano A, Doccini V, Pugi A, Pisano T, Lenge M, … (2019). Long-term efficacy of add-on stiripentol treatment in children, adolescents, and young adults with refractory epilepsies: A single center prospective observational study. Epilepsia, 60(11):2255-2262.

Rogawski MA (2019). Reduced efficacy and risk of seizure aggravation when cannabidiol is used without clobazam. Epilepsy Behavior.

Cross JH, Cock H (2019). A perspective on cannabinoids for treating epilepsy: Do they really change the landscape? Neuropharmacology, 107861.

Nabbout R, Mistry A, Zuberi S, Villeneuve N, Gil-Nagel A, Sanchez-Carpintero R, Stephani U, Laux L… (2019). Fenfluramine for Treatment-Resistant Seizures in Patients With Dravet Syndrome Receiving Stiripentol-Inclusive Regimens A Randomized Clinical Trial. JAMA Neurology.

Chiron C (2019). Stiripentol for the treatment of seizures associated with Dravet syndrome. Expert Rev Neurother.

Buck ML, Goodkin HP (2019). Stiripentol: A Novel Antiseizure Medication for the Management of Dravet Syndrome. The Annals of Pharmacotherapy.

Warner TA, Smith NK, Kang JQ (2019). The therapeutic effect of stiripentol in Gabrg2+/Q390X mice associated with epileptic encephalopathy. Epilepsy Research, 154:8-12.

Eschbach K, Knupp KG (2019). Stiripentol for the treatment of seizures in Dravet syndrome. Expert Rev Clin Pharmacol. 12(5):379-388.

Laux LC, Bebin EM, Checketts D, Chez M, Flamini R, Marsh ED,… (2019). Long-term safety and efficacy of cannabidiol in children and adults with treatment resistant Lennox-Gastaut syndrome or Dravet syndrome: Expanded access program results. Epilepsia Research, 154:13-20.

Schubert-Bast S, Wolff M, Wiemer-Kruel A, von Spiczak S, Trollmann R, Reif PS,…(2019). Seizure management and prescription patterns of anticonvulsants in Dravet syndrome: A multicenter cohort study from Germany and review of literature. Epilepsy Behav, 98(Pt A):88-95.

Min Jung Cho, Soon Sung Kwon, Ara Ko, Seung-Tae Lee, Young Mock Lee, Heung Dong Kim,… (2018). Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations. Journal of Clinical Neurology, 14(1): 22–28.

Brigo F, Striano P, Balagura G, Belcastro V (2018). Emerging drugs for the treatment of Dravet syndrome. Expert Opinion on Emerging Drugs.

Sands TT, Rahdari S, Oldham MS, Caminha Nunes E, Tilton N, Cilio MR (2019). Long-Term Safety, Tolerability, and Efficacy of Cannabidiol in Children with Refractory Epilepsy: Results from an Expanded Access Program in the US. CNS Drugs.

Ali S, Scheffer IE, Sadleir LG (2019). Efficacy of cannabinoids in paediatric epilepsy. Developmental Medicine and Child Neurology, 61(1):13-18.

Sourbron J, Partoens M, Scheldeman C, Zhang Y, Lagae L, de Witte P (2019). Drug repurposing for Dravet syndrome in scn1Lab-/- mutant zebrafish. Epilepsia, 60(2):e8-e13.

Chiron C, Helias M, Kaminska A, Laroche C, de Toffol B, Dulac O, Nabbout R, An I (2018). Do children with Dravet syndrome continue to benefit from stiripentol for long through adulthood? Epilepsia, 59(9):1705-1717.

Pembegul Yıldız E, Ozkan MU, Uzunhan TA, Bektaş G, Tatlı B, Aydınlı N,…(2018). Efficacy of Stiripentol and the Clinical Outcome in Dravet Syndrome. Journal of Child Neurology, 883073818811538.

Ziobro J, Eschbach K, Sullivan JE, Knupp KG (2018). Current Treatment Strategies and Future Treatment Options for Dravet Syndrome. Current Treatment Options in Neurology, 20(12):52.   

Devinsky O, Patel AD, Thiele EA, Wong MH, Appleton R, Harden CL,…(2018). Randomized, dose-ranging safety trial of cannabidiol in Dravet syndrome. Neurology, 90(14):e1204-e1211.

Boyd B, Smith S, Gammaitoni A, Galer BS, Farfel GM (2019). A phase I, randomized, open-label, single-dose, 3-period crossover study to evaluate the drug-drug interaction between ZX008 (fenfluramine HCl oral solution) and a regimen of stiripentol, clobazam, and valproate in healthy subject. International Journal of Clinical Pharmacology and Therapeutics. 57(1):11-19.   

Lin KL, Lin JJ, Chou ML, Hung PC, Hsieh MY, Chou IJ,…(2018). Efficacy and tolerability of perampanel in children and adolescents with pharmacoresistant epilepsy: The first real-world evaluation in Asian pediatric neurology clinics. Epilepsy & Behavior, 85:188-194.

de Lange IM, Gunning B, Sonsma ACM, van Gemert L, van Kempen M, Verbeek NE,… (2018). Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in SCN1A-related seizure phenotypes. Epilepsia, 59(6):1154-1165.

Yan N, Xin-Hua W, Lin-Mei Z, Yi-Ming C, Wen-Hui L, Yuan-Feng Z, Shui-Zhen Z (2018). Prospective study of the efficacy of a ketogenic diet in 20 patients with Dravet syndrome. Seizure, 60:144-148.

Myers KA, Lightfoot P, Patil SG, Cross JH & Scheffer IE (2018). Stiripentol efficacy and safety in Dravet syndrome: a 12-years observational study. Developmental Medicine and Child Neurology.

Chiron C (2018). Long-term pragmatic use of Stiripentol for Dravet syndrome. Developmental Medicine and Child Neurology.

Knupp KG & Wirrell EC (2018). Treatment strategies for Dravet syndrome. CNS Drugs.

Lotte J, Grothe S & Kluger GJ (2018). Seizure Freedom in Patients with Dravet Syndrome with Contraceptives: A Case Report with Two Patients. Neuropediatrics.

Devinsky O, Cross JH, Laux L, Marsh E, Miller I, Nabbout R, … Cannabidiol in Dravet Syndrome Study Group (2017). Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome. The New England Journal of Medicine, 376(21):2011-2020.

Dibué-Adjei M, Fischer I, Steiger HJ & Kamp MA (2017). Efficacy of adjunctive vagus nerve stimulation in patients with Dravet syndrome: A meta-analysis of 68 patients. Seizure, 50:147-152.

Morimoto M, Shimakawa S, Hashimoto T, Kitaoka T, Kyotani S (2017). Marked efficacy of combined three-drug therapy (Sodium Valproate, Topiramate and Stiripentol) in a patient with Dravet syndrome. Journal of Clinical Pharmacy and Therapeutics.

Balestrini, S. & Sisodiya, S.M. (2017). Audit of use of stiripentol in adults with Dravet syndrome. Acta neurological scandinavia, 135 (1), 73-79.

Griffin A, Hamling KR, Knupp K, Hong S, Lee LP, Baraban SC. (2017). Clemizole and modulators of serotonin signalling suppress seizures in Dravet syndrome. Brain, 140(3):669-683.

Patients

Nabbout R, Auvin S, Chiron C, Thiele E, Cross H, Scheffer IE, … (2019). Perception of impact of Dravet syndrome on children and caregivers in multiple countries: looking beyond seizures. Dev Med Child Neurol.

Camfield PR, Andrade D, Camfield CS, Carrizosa-Moog J, Appleton R, Baulac M,…(2019). How can transition to adult care be best orchestrated for adolescents with epilepsy? Epilepsy Behav, 93:138-147

Reaven NL, Funk SE, Lyons PD, Story TJ (2019). The direct cost of seizure events in severe childhood-onset epilepsies: A retrospective claims-based analysis. Epilepsy Behavior, 93:65-72.      

Nabbout R, Andrade DM, Bahi-Buisson N, Cross H, Desquerre I, Dulac O, … (2017). Outcome of childhood-onset epilepsy from adolescence to adulthood: Transition issues. Epilepsy & Behavior, 69:161-169.

Gil-Nagel A, Sanchez-Carpintero R, San Antonio V, Mistry A, Barker G, Shepherd J, Gil A (2019). Ascertaining the epidemiology, patient flow and disease management for Dravet syndrome in Spain. Revista de neurologia, 68(2):75-81.

Lagae L, Irwin J, Gibson E, Battersby A (2019). Caregiver impact and health service use in high and low severity Dravet syndrome: A multinational cohort study. Seizure, 65:72-79.

Sinoo C, de Lange IM, Westers P, Gunning WB, Jongmans MJ, Brilstra EH (2019). Behavior problems and health-related quality of life in Dravet syndrome. Epilepsy & Behavior, 90:217-227.

Schoonjans AS, De Keersmaecker S, Van Bouwel M, Ceulemans B (2018). More daytime sleepiness and worse quality of sleep in patients with Dravet Syndrome compared to other epilepsy patients. European Journal of Paediatric Neurology, pii: S1090-3798(18)30012-6.

Myers KA, Davey MJ, Ching M, Ellis C, Grinton BE, Roten A,…(2018). Randomized Controlled Trial of Melatonin for Sleep Disturbance in Dravet Syndrome: The DREAMS Study. Journal of Clinical Sleep Medicine, 14(10):1697-1704.

Campbell JD, Whittington MD, Kim CH, VanderVeen GR, Knupp KG & Gammaitoni A (2018). Assessing the impact of caring for a child with Dravet syndrome: Results of a caregiver survey. Epilepsy & Behavior, 80:152-156.

Camfield, P., Camfield, C., & Nolan, K. (2016). Helping families with the severe stress of Dravet Syndrome. The Canadian journal of neurological science, 43 Suppl 3, S9-S12.

2/ REFERENCES

Diagnostic

Dravet, C. (2011). The core Dravet syndrome phenotype. Epilepsia, 52 Suppl 2, 3–9.

Gaily, E., Anttonen, A.-K., Valanne, L., Liukkonen, E., Träskelin, A.-L., Polvi, A., … Lehesjoki, A.-E. (2013).
Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings. Epilepsia, 54(9), 1577–1585.

Guerrini, R., & Oguni, H. (2011). Borderline Dravet syndrome: a useful diagnostic category? Epilepsia, 52 Suppl 2, 10–12.

Hattori, J., Ouchida, M., Ono, J., Miyake, S., Maniwa, S., Mimaki, N., … Ohmori, I. (2008).
A screening test for the prediction of Dravet syndrome before one year of age. Epilepsia, 49(4), 626–633.

Kanazawa, O. (2001).
Refractory grand mal seizures with onset during infancy including severe myoclonic epilepsy in infancy. Brain & development, 23(7), 749–756.

Ragona, F., Brazzo, D., De Giorgi, I., Morbi, M., Freri, E., Teutonico, F., … Granata, T. (2010).
Dravet syndrome: early clinical manifestations and cognitive outcome in 37 Italian patients. Brain & development, 32(1), 71–77.

Sarisjulis, N., Gamboni, B., Plouin, P., Kaminska, A., & Dulac, O. (2000).
Diagnosing idiopathic/cryptogenic epilepsy syndromes in infancy. Archives of disease in childhood, 82(3), 226–230.

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Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations. Epilepsia, 48(6), 1092–1096.

Thanh, T. N., Chiron, C., Dellatolas, G., Rey, E., Pons, G., Vincent, J., & Dulac, O. (2002).
[Long-term efficacy and tolerance of stiripentaol in severe myoclonic epilepsy of infancy (Dravet’s syndrome)]. Archives de pédiatrie: organe officiel de la Sociéte française de pédiatrie, 9(11), 1120–1127.

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Myoclonic astatic epilepsy: an age-dependent epileptic syndrome with favorable seizure outcome but variable cognitive evolution. Epilepsy research, 97(1-2), 133–141.

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Severe myoclonic epilepsy in infancy: evolution of electroencephalographic and clinical features. Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui, 37(6), 428–432.

Yakoub, M., Dulac, O., Jambaqué, I., Chiron, C., & Plouin, P. (1992).
Early diagnosis of severe myoclonic epilepsy in infancy. Brain & development, 14(5), 299–303.


Course

Akiyama, M., Kobayashi, K., Yoshinaga, H., & Ohtsuka, Y. (2010).
A long-term follow-up study of Dravet syndrome up to adulthood. Epilepsia, 51(6), 1043–1052.

Catarino, C. B., Liu, J. Y. W., Liagkouras, I., Gibbons, V. S., Labrum, R. W., Ellis, R., … Sisodiya, S. M. (2011).
Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology. Brain: a journal of neurology, 134(Pt 10), 2982–3010.

Ceulemans, B. (2011).
Overall management of patients with Dravet syndrome. Developmental medicine and child neurology, 53 Suppl 2, 19–23.

Jansen, F. E., Sadleir, L. G., Harkin, L. A., Vadlamudi, L., McMahon, J. M., Mulley, J. C., … Berkovic, S. F. (2006).
Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults. Neurology, 67(12), 2224–2226.

Martin, P., Rautenstrauβ, B., Abicht, A., Fahrbach, J., & Koster, S. (2010).
Severe Myoclonic Epilepsy in Infancy – Adult Phenotype with Bradykinesia, Hypomimia, and Perseverative Behavior: Report of Five Cases. Molecular syndromology, 1(5), 231–238.

Sakauchi, M., Oguni, H., Kato, I., Osawa, M., Hirose, S., Kaneko, S. … Fujiwara, T. (2011).
Retrospective multiinstitutional study of the prevalence of early death in Dravet syndrome. Epilepsia, 52(6), 1144–1149.


Genetics

Carvill GL, Heavin SB, Yendle SC, McMahon JM, O’Roak BJ, Cook J, Khan A, Dorschner MO, Weaver M, Calvert S, Malone S, Wallace G, Stanley T, Bye AM, Bleasel A, Howell KB, Kivity S, Mackay MT, Rodriguez-Casero V, Webster R, Korczyn A, Afawi Z, Zelnick N, Lerman-Sagie T, Lev D, Møller RS, Gill D, Andrade DM, Freeman JL, Sadleir LG, Shendure J, Berkovic SF, Scheffer IE, Mefford HC. Nat Genet. 2013 Jul;45(7):825-30.

Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. American Journal of Human Genetics. 2001, 68(6), 1327-32.

Depienne C, Arzimanoglou A, Trouillard O, Fedirko E, Baulac S, et al. (2006) Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy. Human Mutation 27: 389

Depienne, C, Trouillard, O., Saint-Martin, C., Gourfinkel-An, I., Bouteiller, D., Carpentier, W., LeGuern, E. (2009). Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. Journal of medical genetics, 46(3), 183–191.

Depienne, Christel, & LeGuern, E. (2012). PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder. Human mutation, 33(4), 627–634.

Depienne C, Trouillard O, Gourfinkel-An I, Saint-Martin C, Bouteiller D, Graber D, Barthez-Carpentier MA, Gautier A, Villeneuve N, Dravet C, Livet MO, Rivier-Ringenbach C, Adam C, Dupont S, Baulac S, Héron D, Nabbout R, Leguern E. Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome. J Med Genet. 2010 Jun;47(6):404-10.

Nabbout, R., Gennaro, E., Dalla Bernardina, B., Dulac, O., Madia, F., Bertini, E., … Zara, F. (2003). Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. Neurology, 60(12), 1961–1967.

Ogiwara I, Nakayama T, Yamagata T, Ohtani H, Mazaki E, Tsuchiya S, Inoue Y, Yamakawa K. A homozygous mutation of voltage-gated sodium channel β(I) gene SCN1B in a patient with Dravet syndrome. Epilepsia. 2012 Dec;53(12):e200-3

Oguni, H., Hayashi, K., Osawa, M., Awaya, Y., Fukuyama, Y., Fukuma, G., … Kaneko, S. (2005). Severe myoclonic epilepsy in infancy: clinical analysis and relation to SCN1A mutations in a Japanese cohort. Advances in neurology, 95, 103–117.

Patino GA, Claes LR, Lopez-Santiago LF, Slat EA, Dondeti RS, Chen C, O’Malley HA, Gray CB, Miyazaki H, Nukina N, Oyama F, De Jonghe P, Isom LL. A functional null mutation of SCN1B in a patient with Dravet syndrome. J Neurosci. 2009 Aug 26;29(34):10764-78.

Singh, R., Macdonell, R. A., Scheffer, I. E., Crossland, K. M., & Berkovic, S. F. (1999). Epilepsy and paroxysmal movement disorders in families: evidence for shared mechanisms. Epileptic disorders: international epilepsy journal with videotape, 1(2), 93–99.

Veggiotti, P., Cardinali, S., Montalenti, E., Gatti, A., & Lanzi, G. (2001). Generalized epilepsy with febrile seizures plus and severe myoclonic epilepsy in infancy: a case report of two Italian families. Epileptic disorders: international epilepsy journal with videotape, 3(1), 29–32.

Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato N, Dufke A, Cremer K, Hempel M, Horn D, Hoyer J, Joset P, Röpke A, Moog U, Riess A, Thiel CT, Tzschach A, Wiesener A, Wohlleber E, Zweier C, Ekici AB, Zink AM, Rump A, Meisinger C, Grallert H, Sticht H, Schenck A, Engels H, Rappold G, Schröck E, Wieacker P, Riess O, Meitinger T, Reis A, Strom TM. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet. 2012 Nov 10;380(9854):1674-82.

Scheffer IE, Zhang YH, Jansen FE, Dibbens L. Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus? Brain Dev. 2009 May;31(5):394-400.

Suls, A., Jaehn, J. A., Kecskés, A., Weber, Y., Weckhuysen, S., Craiu, D. C., … EuroEPINOMICS RES Consortium. (2013). De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome. American journal of human genetics, 93(5), 967–975.


Management

Berkovic, S. F., Harkin, L., McMahon, J. M., Pelekanos, J. T., Zuberi, S. M., Wirrell, E. C., … Scheffer, I. E. (2006). De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study. Lancet neurology, 5(6), 488–492.

Camfield, P., Camfield, C., & Nolan, K. (2012). Helping families cope with the devastation of Dravet syndrome. European journal of paediatric neurology: EJPN: official journal of the European Paediatric Neurology Society, 16 Suppl 1, S9–12.

Capovilla, G., Gambardella, A., Rubboli, G., Beccaria, F., Montagnini, A., Aguglia, U., … Tassinari, C. A. (2006). Suppressive efficacy by a commercially available blue lens on PPR in 610 photosensitive epilepsy patients. Epilepsia, 47(3), 529–533.

Caraballo, R. H. (2011). Nonpharmacologic treatments of Dravet syndrome: focus on the ketogenic diet. Epilepsia, 52 Suppl 2, 79–82.

Caraballo, R., Vaccarezza, M., Cersósimo, R., Rios, V., Soraru, A., Arroyo, H., … Paníco, L. (2011). Long-term follow-up of the ketogenic diet for refractory epilepsy: multicenter Argentinean experience in 216 pediatric patients. Seizure: the journal of the British Epilepsy Association, 20(8), 640–645.

Ceulemans, B., Boel, M., Claes, L., Dom, L., Willekens, H., Thiry, P., & Lagae, L. (2004). Severe myoclonic epilepsy in infancy: toward an optimal treatment. Journal of child neurology, 19(7), 516–521.

Chipaux, M., Villeneuve, N., Sabouraud, P., Desguerre, I., Boddaert, N., Depienne, C., … Nabbout, R. (2010). Unusual consequences of status epilepticus in Dravet syndrome. Seizure: the journal of the British Epilepsy Association, 19(3), 190–194.

Chiron, C., Marchand, M. C., Tran, A., Rey, E., D’ Athis, P., Vincent, J., … Pons, G. (2000). Stiripentol in severe myoclonic epilepsy in infancy: a randomised placebo-controlled syndrome-dedicated trial. STICLO study group. Lancet, 356(9242), 1638–1642.

Coppola, G., Capovilla, G., Montagnini, A., Romeo, A., Spanò, M., Tortorella, G., … Pascotto, A. (2002). Topiramate as add-on drug in severe myoclonic epilepsy in infancy: an Italian multicenter open trial. Epilepsy research, 49(1), 45–48.

Dravet, C., Dalla Bernardina, B., Mesdjian, E., Galland, M. C., & Roger, J. (1980). [Paroxysmal dyskinesia during treatment with diphenylhydantoin]. Revue neurologique, 136(1), 1–14.

Fisher, J. L. (2009). The anti-convulsant stiripentol acts directly on the GABA(A) receptor as a positive allosteric modulator. Neuropharmacology, 56(1), 190–197.

Fisher, J. L. (2011). The effects of stiripentol on GABA(A) receptors. Epilepsia, 52 Suppl 2, 76–78.

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