Dravet Sendromu
Özet
Dravet Sendromu, sodyum kanalı alfa 1 alt ünite geni SCN1A'daki mutasyonlarla ilişkili, bebeklik döneminde başlayan şiddetli bir epileptik ensefalopatidir. Genellikle boğmaca aşısı gibi tetikleyicilerle ilişkilendirilen klonik jeneralize veya fokal nöbetlerle karakterizedir. Çocuklarda bilişsel ve davranışsal bozukluklara neden olur. Tedavide, antiepileptik ilaçlar, diyet tedavileri ve nadiren cerrahi seçenekler kullanılır. Özellikle valproat, klobazam ve stiripentol kombinasyonunun yaygın olarak kullanıldığı tedavi rejimleri bulunmaktadır. Aşı sonrası nöbetler gözlenebilir, bu nedenle aşıların dikkatli bir şekilde takip edilmesi önemlidir.
Dravet Sendromu'nun yönetimi, multidisipliner bir yaklaşımı gerektirir. Hastaların özelliklerine ve semptomlarına özgü tedavi planları oluşturulmalıdır. Bu sendromun etkili bir şekilde yönetilmesi, hastaların yaşam kalitesini artırmak için kritiktir.
Dravet syndrome is associated with mutations in the sodium channel alpha-1 subunit gene SCN1A and is a severe epileptic encephalopathy that typically begins in infancy. It is characterized by clonic generalized or focal seizures often associated with triggers such as vaccinations like the pertussis vaccine. It leads to cognitive and behavioral impairments in children. In treatment, antiepileptic drugs, dietary therapies, and rarely surgical options are used. There are treatment regimens commonly used, particularly combinations of valproate, clobazam, and stiripentol. Seizures may occur after vaccination, so careful monitoring of vaccinations is important.
The management of Dravet syndrome requires a multidisciplinary approach. Tailored treatment plans should be developed based on the characteristics and symptoms of patients. Effectively managing this syndrome is critical to improving patients' quality of life.
Referanslar
Zuberi SM, Wirrell E, Yozawitz E, Wilmshurst JM, Specchio N, Riney K, et al. ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia. 2022 Jun 1;63(6):1349–97.
Connolly M.. Dravet syndrome: diagnosis and long-term course. Canadian Journal of Neurological Sciences / Journal Canadien Des Sciences Neurologiques 2016;43(S3):S3-S8. https://doi.org/10.1017/cjn.2016.243
Gataullina S. and Dulac O.. From genotype to phenotype in dravet disease. Seizure 2017;44:58-64. https://doi.org/10.1016/j.seizure.2016.10.014
Catterall W., Dravet syndrome: a sodium channel interneuronopathy. Current Opinion in Physiology 2018;2:42-50. https://doi.org/10.1016/j.cophys.2017.12.007
Symonds J., Zuberi S., Stewart K., McLellan A., O’Regan M., MacLeod S.et al.. Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort. Brain 2019;142(8):2303-2318. https://doi.org/10.1093/brain/awz195
Wu Y., Sullivan J., McDaniel S., Meisler M., Walsh E., Li S.et al.. Incidence of dravet syndrome in a us population. Pediatrics 2015;136(5):e1310-e1315. https://doi.org/10.1542/peds.2015-1807
Macdonald-Laurs E., Corlette S., Davidson A., & Howell K.. Anesthetic considerations in dravet syndrome. Pediatric Anesthesia 2022;32(10):1166-1168. https://doi.org/10.1111/pan.14525
Bayat A., Hjalgrim H., & Møller R.. The incidence of scn1a‐related dravet syndrome in denmark is 1:22,000: a population‐based study from 2004 to 2009. Epilepsia 2015;56(4). https://doi.org/10.1111/epi.12927
Depienne C., Trouillard O., Saint‐Martin C., Gourfinkel‐An I., Bouteiller D., Carpentier W.et al.. Spectrum of scn1a gene mutations associated with dravet syndrome: analysis of 333 patients. Journal of Medical Genetics 2008;46(3):183-191. https://doi.org/10.1136/jmg.2008.062323
Gheyara A., Ponnusamy R., Djukic B., Craft R., Ho K., Guo W.et al.. Tau reduction prevents disease in a mouse model of dravet syndrome. Annals of Neurology 2014;76(3):443-456. https://doi.org/10.1002/ana.24230
Suls A., Jaehn J., Kecskés A., Weber Y., Weckhuysen S., Craiu D.et al.. De novo loss-of-function mutations in chd2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with dravet syndrome. The American Journal of Human Genetics 2013;93(5):967-975. https://doi.org/10.1016/j.ajhg.2013.09.017
Sánchez-Carpintero R. and Urrestarazu E.. Musicogenic seizures in dravet syndrome. Developmental Medicine & Child Neurology 2013;55(7):668-670. https://doi.org/10.1111/dmcn.12138
Carvill G., Weckhuysen S., McMahon J., Hartmann C., Møller R., Hjalgrim H.et al.. Gabra1 and stxbp1: novel genetic causes of dravet syndrome. Neurology 2014;82(14):1245-1253. https://doi.org/10.1212/wnl.0000000000000291
Aras L., Isla J., & Mingorance A.. The european patient with dravet syndrome: results from a parent-reported survey on antiepileptic drug use in the european population with dravet syndrome. Epilepsy & Behavior 2015;44:104-109. https://doi.org/10.1016/j.yebeh.2014.12.028
Marini C., Scheffer I., Nabbout R., Suls A., Jonghe P., Zara F.et al.. The genetics of dravet syndrome. Epilepsia 2011;52(s2):24-29. https://doi.org/10.1111/j.1528-1167.2011.02997.x
Singh N., Pappas C., Dahle E., Claes L., Pruess T., Jonghe P.et al.. A role of scn9a in human epilepsies, as a cause of febrile seizures and as a potential modifier of dravet syndrome. Plos Genetics 2009;5(9):e1000649. https://doi.org/10.1371/journal.pgen.1000649
Guerrini R. and Oguni H.. Borderline dravet syndrome: a useful diagnostic category?. Epilepsia 2011;52(s2):10-12. https://doi.org/10.1111/j.1528-1167.2011.02995.x
Hawkins N., Anderson L., Gertler T., Laux L., George A., & Kearney J.. Screening of conventional anticonvulsants in a genetic mouse model of epilepsy. Annals of Clinical and Translational Neurology 2017;4(5):326-339. https://doi.org/10.1002/acn3.413
Catterall W.. Dravet syndrome: a sodium channel interneuronopathy. Current Opinion in Physiology 2018;2:42-50. https://doi.org/10.1016/j.cophys.2017.12.007
Wirrell E., Laux L., Donner E., Jetté N., Knupp K., Meskis M.et al.. Optimizing the diagnosis and management of dravet syndrome: recommendations from a north american consensus panel. Pediatric Neurology 2017;68:18-34.e3. https://doi.org/10.1016/j.pediatrneurol.2017.01.025
Wirrell E.. Treatment of dravet syndrome. Canadian Journal of Neurological Sciences / Journal Canadien Des Sciences Neurologiques 2016;43(S3):S13-S18. https://doi.org/10.1017/cjn.2016.249
Gonzalez-Giraldo E. and Sullivan J.. Advances in the treatment of drug-resistant pediatric epilepsy. Seminars in Neurology 2020;40(02):257-262. https://doi.org/10.1055/s-0040-1702941
Polster T.. Individualized treatment approaches: fenfluramine, a novel antiepileptic medication for the treatment of seizures in dravet syndrome. Epilepsy & Behavior 2019;91:99-102. https://doi.org/10.1016/j.yebeh.2018.08.021
Gonzalez-Giraldo E. and Sullivan J.. Advances in the treatment of drug-resistant pediatric epilepsy. Seminars in Neurology 2020;40(02):257-262. https://doi.org/10.1055/s-0040-1702941
Polster T.. Individualized treatment approaches: fenfluramine, a novel antiepileptic medication for the treatment of seizures in dravet syndrome. Epilepsy & Behavior 2019;91:99-102. https://doi.org/10.1016/j.yebeh.2018.08.021
Chen J., Borgelt L., & Blackmer A.. Cannabidiol: a new hope for patients with dravet or lennox-gastaut syndromes. Annals of Pharmacotherapy 2019;53(6):603-611. https://doi.org/10.1177/1060028018822124
LaFleur K. and Nemec E.. What is the role of cannabidiol in refractory epilepsy?. Jaapa 2019;32(3):16-18. https://doi.org/10.1097/01.jaa.0000553393.36249.df
Laux L. and Blackford R.. The ketogenic diet in dravet syndrome. Journal of Child Neurology 2013;28(8):1041-1044. https://doi.org/10.1177/0883073813487599
Wright R., Hernandez A., Malik S., Donahue D., Alles A., & Perry M.. Dravet syndrome associated with cortical dysplasia of taylor-type. Journal of Pediatric Neurology 2015;09(04):479-481. https://doi.org/10.3233/jpn-2011-0508
Griffin A., Jaishankar P., Grandjean J., Olson S., Renslo A., & Baraban S.. Zebrafish studies identify serotonin receptors mediating antiepileptic activity in dravet syndrome. Brain Communications 2019;1(1). https://doi.org/10.1093/braincomms/fcz008
Beretta S., Gritti L., Ponzoni L., Scalmani P., Mantegazza M., Sala M.et al.. Rescuing epileptic and behavioral alterations in a dravet syndrome mouse model by inhibiting eukaryotic elongation factor 2 kinase (eef2k). Molecular Autism 2022;13(1). https://doi.org/10.1186/s13229-021-00484-0
Anderson L., Hawkins N., Thompson C., Kearney J., & George A.. Unexpected efficacy of a novel sodium channel modulator in dravet syndrome. Scientific Reports 2017;7(1). https://doi.org/10.1038/s41598-017-01851-9
Dinday M. and Baraban S.. Large-scale phenotype-based antiepileptic drug screening in a zebrafish model of dravet syndrome. Eneuro 2015;2(4):ENEURO.0068-15.2015. https://doi.org/10.1523/eneuro.0068-15.2015
Zhang Y., Kecskés A., Copmans D., Langlois M., Crawford A., Ceulemans B.et al.. Pharmacological characterization of an antisense knockdown zebrafish model of dravet syndrome: inhibition of epileptic seizures by the serotonin agonist fenfluramine. Plos One 2015;10(5):e0125898. https://doi.org/10.1371/journal.pone.0125898
Andrade, D. M., Nascimento, F. A. Dravet syndrome: Dravet syndrome: Management and prognosis https://www.uptodate.com” .
Ho S., Li L., Chen I., Tsai C., Chang F., & Liou H.. Perampanel reduces hyperthermia-induced seizures in dravet syndrome mouse model. Frontiers in Pharmacology 2021;12. https://doi.org/10.3389/fphar.2021.682767
Giraud C, Treluyer JM, Rey E, et al. In vitro and in vivo inhibitory effect of stiripentol on clobazam metabolism. Drug Metab Dispos 2006; 34:608.
Jullien V, Chhun S, Rey E, et al. Pharmacokinetics of clobazam and N-desmethylclobazam in children with dravet syndrome receiving concomitant stiripentol and valproic Acid. Clin Pharmacokinet 2015; 54:527.
Ceulemans B, Schoonjans AS, Marchau F, et al Syndrome Receiving Stiripentol-Inclusive Regimens: A Randomized Clinical Trial. JAMA Neurol 2020; 77:300. Five-year extended follow-up status of 10 patients with Dravet syndrome treated with fenfluramine. Epilepsia 2016; 57:e129.
Sullivan J, Scheffer IE, Lagae L, et al. Fenfluramine HCl (Fintepla® ) provides long-term clinically meaningful reduction in seizure frequency: Analysis of an ongoing open-label extension study. Epilepsia 2020; 61:2396.
Sullivan J, Auvin S, Pringsheim M, et al. Long-term (2-year) safety and efficacy of adjunctive ZX008 (fenfluramine hydrochloride oral solution) for Dravet syndrome: Interim results of an ongoing open-label extension study (4684). Neurology 2020; 94.
Sanmartin P. and Detyniecki K.. Cannabidiol for epilepsy: new hope on the horizon?. Clinical Therapeutics 2018;40(9):1438-1441. https://doi.org/10.1016/j.clinthera.2018.07.020
Chiron C.. Stiripentol for the treatment of dravet syndrome. Orphan Drugs Research and Reviews 2014:29. https://doi.org/10.2147/odrr.s47619
Zographos G., Russ-Hall S., & Scheffer I.. Does long‐term phenytoin have a place in dravet syndrome?. Annals of Clinical and Translational Neurology 2022;9(12):2036-2040. https://doi.org/10.1002/acn3.51684
Korff C., Laux L., Kelley K., Goldstein J., Koh S., & Nordli D.. Dravet syndrome (severe myoclonic epilepsy in infancy): a retrospective study of 16 patients. Journal of Child Neurology 2007;22(2):185-194. https://doi.org/10.1177/0883073807300294
Wirrell EC, Hood V, Knupp KG, et al. International consensus on diagnosis and management of Dravet syndrome. Epilepsia 2022; 63:1761.
Verbeek NE, van der Maas NA, Sonsma AC, et al. Effect of vaccinations on seizure risk and disease course in Dravet syndrome. Neurology 2015; 85:596.
Zamponi N, Passamonti C, Petrelli C, et al. Vaccination and occurrence of seizures in SCN1A mutation-positive patients: a multicenter Italian study. Pediatr Neurol 2014; 50:228.
Hood V, Berg AT, Knupp KG, et al. COVID-19 vaccine in patients with Dravet syndrome: Observations and real-world experiences. Epilepsia 2022; 63:1778.
McIntosh AM, McMahon J, Dibbens LM, et al. Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study. Lancet Neurol 2010; 9:592
Fasano A, Borlot F, Lang AE, Andrade DM. Antecollis and levodopa-responsive parkinsonism are late features of Dravet syndrome. Neurology 2014; 82:2250.
Wallace A, Wirrell E, Kenney-Jung DL. Pharmacotherapy for Dravet Syndrome. Paediatr Drugs 2016; 18:197.
Villas N, Meskis MA, Goodliffe S. Dravet syndrome: Characteristics, comorbidities, and caregiver concerns. Epilepsy Behav 2017; 74:81.
Van Nuland A, Ivanenko A, Meskis MA, et al. Sleep in Dravet syndrome: A parent-driven survey. Seizure 2021; 85:102.
Gataullina S. and Dulac O.. Is epilepsy the cause of comorbidities in dravet syndrome?. Developmental Medicine & Child Neurology 2017;60(1):8-8. https://doi.org/10.1111/dmcn.13613
Lagae L., Brambilla I., Mingorance A., Gibson E., & Battersby A.. Quality of life and comorbidities associated with dravet syndrome severity: a multinational cohort survey. Developmental Medicine & Child Neurology 2017;60(1):63-72. https://doi.org/10.1111/dmcn.13591
Referanslar
Zuberi SM, Wirrell E, Yozawitz E, Wilmshurst JM, Specchio N, Riney K, et al. ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia. 2022 Jun 1;63(6):1349–97.
Connolly M.. Dravet syndrome: diagnosis and long-term course. Canadian Journal of Neurological Sciences / Journal Canadien Des Sciences Neurologiques 2016;43(S3):S3-S8. https://doi.org/10.1017/cjn.2016.243
Gataullina S. and Dulac O.. From genotype to phenotype in dravet disease. Seizure 2017;44:58-64. https://doi.org/10.1016/j.seizure.2016.10.014
Catterall W., Dravet syndrome: a sodium channel interneuronopathy. Current Opinion in Physiology 2018;2:42-50. https://doi.org/10.1016/j.cophys.2017.12.007
Symonds J., Zuberi S., Stewart K., McLellan A., O’Regan M., MacLeod S.et al.. Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort. Brain 2019;142(8):2303-2318. https://doi.org/10.1093/brain/awz195
Wu Y., Sullivan J., McDaniel S., Meisler M., Walsh E., Li S.et al.. Incidence of dravet syndrome in a us population. Pediatrics 2015;136(5):e1310-e1315. https://doi.org/10.1542/peds.2015-1807
Macdonald-Laurs E., Corlette S., Davidson A., & Howell K.. Anesthetic considerations in dravet syndrome. Pediatric Anesthesia 2022;32(10):1166-1168. https://doi.org/10.1111/pan.14525
Bayat A., Hjalgrim H., & Møller R.. The incidence of scn1a‐related dravet syndrome in denmark is 1:22,000: a population‐based study from 2004 to 2009. Epilepsia 2015;56(4). https://doi.org/10.1111/epi.12927
Depienne C., Trouillard O., Saint‐Martin C., Gourfinkel‐An I., Bouteiller D., Carpentier W.et al.. Spectrum of scn1a gene mutations associated with dravet syndrome: analysis of 333 patients. Journal of Medical Genetics 2008;46(3):183-191. https://doi.org/10.1136/jmg.2008.062323
Gheyara A., Ponnusamy R., Djukic B., Craft R., Ho K., Guo W.et al.. Tau reduction prevents disease in a mouse model of dravet syndrome. Annals of Neurology 2014;76(3):443-456. https://doi.org/10.1002/ana.24230
Suls A., Jaehn J., Kecskés A., Weber Y., Weckhuysen S., Craiu D.et al.. De novo loss-of-function mutations in chd2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with dravet syndrome. The American Journal of Human Genetics 2013;93(5):967-975. https://doi.org/10.1016/j.ajhg.2013.09.017
Sánchez-Carpintero R. and Urrestarazu E.. Musicogenic seizures in dravet syndrome. Developmental Medicine & Child Neurology 2013;55(7):668-670. https://doi.org/10.1111/dmcn.12138
Carvill G., Weckhuysen S., McMahon J., Hartmann C., Møller R., Hjalgrim H.et al.. Gabra1 and stxbp1: novel genetic causes of dravet syndrome. Neurology 2014;82(14):1245-1253. https://doi.org/10.1212/wnl.0000000000000291
Aras L., Isla J., & Mingorance A.. The european patient with dravet syndrome: results from a parent-reported survey on antiepileptic drug use in the european population with dravet syndrome. Epilepsy & Behavior 2015;44:104-109. https://doi.org/10.1016/j.yebeh.2014.12.028
Marini C., Scheffer I., Nabbout R., Suls A., Jonghe P., Zara F.et al.. The genetics of dravet syndrome. Epilepsia 2011;52(s2):24-29. https://doi.org/10.1111/j.1528-1167.2011.02997.x
Singh N., Pappas C., Dahle E., Claes L., Pruess T., Jonghe P.et al.. A role of scn9a in human epilepsies, as a cause of febrile seizures and as a potential modifier of dravet syndrome. Plos Genetics 2009;5(9):e1000649. https://doi.org/10.1371/journal.pgen.1000649
Guerrini R. and Oguni H.. Borderline dravet syndrome: a useful diagnostic category?. Epilepsia 2011;52(s2):10-12. https://doi.org/10.1111/j.1528-1167.2011.02995.x
Hawkins N., Anderson L., Gertler T., Laux L., George A., & Kearney J.. Screening of conventional anticonvulsants in a genetic mouse model of epilepsy. Annals of Clinical and Translational Neurology 2017;4(5):326-339. https://doi.org/10.1002/acn3.413
Catterall W.. Dravet syndrome: a sodium channel interneuronopathy. Current Opinion in Physiology 2018;2:42-50. https://doi.org/10.1016/j.cophys.2017.12.007
Wirrell E., Laux L., Donner E., Jetté N., Knupp K., Meskis M.et al.. Optimizing the diagnosis and management of dravet syndrome: recommendations from a north american consensus panel. Pediatric Neurology 2017;68:18-34.e3. https://doi.org/10.1016/j.pediatrneurol.2017.01.025
Wirrell E.. Treatment of dravet syndrome. Canadian Journal of Neurological Sciences / Journal Canadien Des Sciences Neurologiques 2016;43(S3):S13-S18. https://doi.org/10.1017/cjn.2016.249
Gonzalez-Giraldo E. and Sullivan J.. Advances in the treatment of drug-resistant pediatric epilepsy. Seminars in Neurology 2020;40(02):257-262. https://doi.org/10.1055/s-0040-1702941
Polster T.. Individualized treatment approaches: fenfluramine, a novel antiepileptic medication for the treatment of seizures in dravet syndrome. Epilepsy & Behavior 2019;91:99-102. https://doi.org/10.1016/j.yebeh.2018.08.021
Gonzalez-Giraldo E. and Sullivan J.. Advances in the treatment of drug-resistant pediatric epilepsy. Seminars in Neurology 2020;40(02):257-262. https://doi.org/10.1055/s-0040-1702941
Polster T.. Individualized treatment approaches: fenfluramine, a novel antiepileptic medication for the treatment of seizures in dravet syndrome. Epilepsy & Behavior 2019;91:99-102. https://doi.org/10.1016/j.yebeh.2018.08.021
Chen J., Borgelt L., & Blackmer A.. Cannabidiol: a new hope for patients with dravet or lennox-gastaut syndromes. Annals of Pharmacotherapy 2019;53(6):603-611. https://doi.org/10.1177/1060028018822124
LaFleur K. and Nemec E.. What is the role of cannabidiol in refractory epilepsy?. Jaapa 2019;32(3):16-18. https://doi.org/10.1097/01.jaa.0000553393.36249.df
Laux L. and Blackford R.. The ketogenic diet in dravet syndrome. Journal of Child Neurology 2013;28(8):1041-1044. https://doi.org/10.1177/0883073813487599
Wright R., Hernandez A., Malik S., Donahue D., Alles A., & Perry M.. Dravet syndrome associated with cortical dysplasia of taylor-type. Journal of Pediatric Neurology 2015;09(04):479-481. https://doi.org/10.3233/jpn-2011-0508
Griffin A., Jaishankar P., Grandjean J., Olson S., Renslo A., & Baraban S.. Zebrafish studies identify serotonin receptors mediating antiepileptic activity in dravet syndrome. Brain Communications 2019;1(1). https://doi.org/10.1093/braincomms/fcz008
Beretta S., Gritti L., Ponzoni L., Scalmani P., Mantegazza M., Sala M.et al.. Rescuing epileptic and behavioral alterations in a dravet syndrome mouse model by inhibiting eukaryotic elongation factor 2 kinase (eef2k). Molecular Autism 2022;13(1). https://doi.org/10.1186/s13229-021-00484-0
Anderson L., Hawkins N., Thompson C., Kearney J., & George A.. Unexpected efficacy of a novel sodium channel modulator in dravet syndrome. Scientific Reports 2017;7(1). https://doi.org/10.1038/s41598-017-01851-9
Dinday M. and Baraban S.. Large-scale phenotype-based antiepileptic drug screening in a zebrafish model of dravet syndrome. Eneuro 2015;2(4):ENEURO.0068-15.2015. https://doi.org/10.1523/eneuro.0068-15.2015
Zhang Y., Kecskés A., Copmans D., Langlois M., Crawford A., Ceulemans B.et al.. Pharmacological characterization of an antisense knockdown zebrafish model of dravet syndrome: inhibition of epileptic seizures by the serotonin agonist fenfluramine. Plos One 2015;10(5):e0125898. https://doi.org/10.1371/journal.pone.0125898
Andrade, D. M., Nascimento, F. A. Dravet syndrome: Dravet syndrome: Management and prognosis https://www.uptodate.com” .
Ho S., Li L., Chen I., Tsai C., Chang F., & Liou H.. Perampanel reduces hyperthermia-induced seizures in dravet syndrome mouse model. Frontiers in Pharmacology 2021;12. https://doi.org/10.3389/fphar.2021.682767
Giraud C, Treluyer JM, Rey E, et al. In vitro and in vivo inhibitory effect of stiripentol on clobazam metabolism. Drug Metab Dispos 2006; 34:608.
Jullien V, Chhun S, Rey E, et al. Pharmacokinetics of clobazam and N-desmethylclobazam in children with dravet syndrome receiving concomitant stiripentol and valproic Acid. Clin Pharmacokinet 2015; 54:527.
Ceulemans B, Schoonjans AS, Marchau F, et al Syndrome Receiving Stiripentol-Inclusive Regimens: A Randomized Clinical Trial. JAMA Neurol 2020; 77:300. Five-year extended follow-up status of 10 patients with Dravet syndrome treated with fenfluramine. Epilepsia 2016; 57:e129.
Sullivan J, Scheffer IE, Lagae L, et al. Fenfluramine HCl (Fintepla® ) provides long-term clinically meaningful reduction in seizure frequency: Analysis of an ongoing open-label extension study. Epilepsia 2020; 61:2396.
Sullivan J, Auvin S, Pringsheim M, et al. Long-term (2-year) safety and efficacy of adjunctive ZX008 (fenfluramine hydrochloride oral solution) for Dravet syndrome: Interim results of an ongoing open-label extension study (4684). Neurology 2020; 94.
Sanmartin P. and Detyniecki K.. Cannabidiol for epilepsy: new hope on the horizon?. Clinical Therapeutics 2018;40(9):1438-1441. https://doi.org/10.1016/j.clinthera.2018.07.020
Chiron C.. Stiripentol for the treatment of dravet syndrome. Orphan Drugs Research and Reviews 2014:29. https://doi.org/10.2147/odrr.s47619
Zographos G., Russ-Hall S., & Scheffer I.. Does long‐term phenytoin have a place in dravet syndrome?. Annals of Clinical and Translational Neurology 2022;9(12):2036-2040. https://doi.org/10.1002/acn3.51684
Korff C., Laux L., Kelley K., Goldstein J., Koh S., & Nordli D.. Dravet syndrome (severe myoclonic epilepsy in infancy): a retrospective study of 16 patients. Journal of Child Neurology 2007;22(2):185-194. https://doi.org/10.1177/0883073807300294
Wirrell EC, Hood V, Knupp KG, et al. International consensus on diagnosis and management of Dravet syndrome. Epilepsia 2022; 63:1761.
Verbeek NE, van der Maas NA, Sonsma AC, et al. Effect of vaccinations on seizure risk and disease course in Dravet syndrome. Neurology 2015; 85:596.
Zamponi N, Passamonti C, Petrelli C, et al. Vaccination and occurrence of seizures in SCN1A mutation-positive patients: a multicenter Italian study. Pediatr Neurol 2014; 50:228.
Hood V, Berg AT, Knupp KG, et al. COVID-19 vaccine in patients with Dravet syndrome: Observations and real-world experiences. Epilepsia 2022; 63:1778.
McIntosh AM, McMahon J, Dibbens LM, et al. Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study. Lancet Neurol 2010; 9:592
Fasano A, Borlot F, Lang AE, Andrade DM. Antecollis and levodopa-responsive parkinsonism are late features of Dravet syndrome. Neurology 2014; 82:2250.
Wallace A, Wirrell E, Kenney-Jung DL. Pharmacotherapy for Dravet Syndrome. Paediatr Drugs 2016; 18:197.
Villas N, Meskis MA, Goodliffe S. Dravet syndrome: Characteristics, comorbidities, and caregiver concerns. Epilepsy Behav 2017; 74:81.
Van Nuland A, Ivanenko A, Meskis MA, et al. Sleep in Dravet syndrome: A parent-driven survey. Seizure 2021; 85:102.
Gataullina S. and Dulac O.. Is epilepsy the cause of comorbidities in dravet syndrome?. Developmental Medicine & Child Neurology 2017;60(1):8-8. https://doi.org/10.1111/dmcn.13613
Lagae L., Brambilla I., Mingorance A., Gibson E., & Battersby A.. Quality of life and comorbidities associated with dravet syndrome severity: a multinational cohort survey. Developmental Medicine & Child Neurology 2017;60(1):63-72. https://doi.org/10.1111/dmcn.13591
