ERN EpiCARE. A European Reference Network for Rare and Complex Epilepsies. Petr Marusic Motol University Hospital, Prague
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1 ERN EpiCARE A European Reference Network for Rare and Complex Epilepsies Petr Marusic Motol University Hospital, Prague
2 Disclosure I have no actual or potential conflict of interest in relation to this program/presentation
3 The Epilepsies A group of conditions characterised by tendency to recurrent epileptic seizures Treatments Antiepileptic drugs Dietary treatment Stimulation Epilepsy surgery (curative) in carefully selected individuals Changing concepts: a group of rare diseases for which targeted treatment are possible
4 Early myoclonic encephalopathy PIGA, SETBP1, SIK1, SLC25A22 Dravet syndrome SCN1A, GABRA1, GABRG2, HCN1, KCNA2,SCN1B, STXBP1 Lesional focal epilepsy Non-lesional focal epilepsy ENFL1, ENFL2, LGI-1 Early-onset epileptic encephalopathy KCNQ2, AARS, CACNA2D2, NECAP1, PIGA, QARS, SCN8A CDKL5, SCN2A STXBP1, GNAO1 Early infantile epileptic ARX, DOCK7, encephalopathy SLC25A22, (Ohtahara syndrome) SLC35A2, WWOX KCNQ2 KCNT1, PIGQ Epilepsy of infancy with migrating focal seizures KCNT1, SCN2A, SCN1A PLCB1, QARS, SCN8A, SLC25A22, TBC1D24, SLC12A5 Infantile spasms ALG13, DNM1, FOXG1 duplications, GABRA1,GABRB3, GRIN1, GRIN2A, GRIN2B, IQSEC2, KCNT1, MAGI2, MEF2C, NEDDL4, NDP, NRXN1, PIGA, PLCB1, PTEN, SCA2,SCN1A, SCN2A, SCN8A, SETBP1, SIK1, SLC25A22, SLC35A2, SPTAN1, ST3GAL3, STXBP1, TBC1D24, TCF4 Tuberous sclerosis complex TSC1, TSC2, DEPDC5, GATOR1 Epilepsy with myoclonic atonic seizures SLC2A1, SLC6A1, GABRA1, GABRG2, SCN1A, SCN1B Rasmussen Syndrome, onset > 2 years Lennox-Gastaut syndrome ALG13, DNM1, FLNA, GABRB3, GLI3, HNRNPU, SCN1A, SCN2A, SCN8A, STXBP1 Progressive myoclonic epilepsy EPM1, EPM2A, CLN Epilepsy aphasia spectrum GRIN2A Other predominantly myoclonic epilepsies Onset 0 1 years: EEF1A2, MEF2C, SCN1A, SLC2A1, SPTAN1, SYNGAP1, TBC1D24 Other predominantly myoclonic epilepsies, onset >1 year: CHD2, MEF2C, SYNGAP1, UBE3A Other predominantly focal or multifocal epilepsies, onset 0-6 mon ARHGEF9, DEPDC5, SCN1A, TBC1D24, PNKP, SLC2A1 Other predominantly multifocal / focal epilepsies, onset 6-12 mon ARHGEF9, DEPDC5, FOXG1 mutations, MBD5, PIGO, SLC13A5 Other predominantly focal or multifocal epilepsies, onset > 1 year ARHGEF9, DEPDC5, MBD5, PCDH19, POLG, TNK2, ZEB2 <6 mon 6-12 mon 1-4 y 5-10 y >11 y
5 Definitions Rare epilepsies: an epilepsy with incidence < 5 in 10,000 population, either defined as epilepsy syndrome or aetiologically driven epilepsy Complex epilepsies: an epilepsy requiring multidisciplinary management through care pathway or comorbidity, with or without known aetiology eg surgically treatable epilepsies needing a high level of multidisciplinary expertise (including video-eeg analysis, functional and/or structural neuroimaging etc.)
6 Epilepsy surgery multidisciplinary expertise
7 Epilepsy surgery multidisciplinary expertise
8 Epilepsy surgery multidisciplinary expertise
9 Epilepsy surgery multidisciplinary expertise
10 Hypothalamic hamartomas With gelastic seizures ORPHA:86906 non-neoplastic developmental malformation other seizure types including focal and generalized seizures concomitant cognitive decline and behavioral disorders some patients also present a precocious puberty
11 Hypothalamic hamartomas MRI FLAIR, coronal section
12 Hypothalamic hamartomas MRI FLAIR, coronal section
13 Hypothalamic hamartomas Surgical resection - transcallosal - pterional - endoscopic Stereotactic - thermoablation - thermocoagulation Gama Knife radiosurgery MRI FLAIR, coronal section
14 Hypothalamic hamartomas Gama Knife radiosurgery - many beams of radiation that converge on a single point - individual beam is not powerful enough to destroy healthy tissue MRI FLAIR, coronal section
15 A pilot ERN: to raise awareness & accessibility of epilepsy surgery 13 members 11 associate partners Systematic reviews, guidelines and recommendations E-PILEPSY website E-Database E-Care platform (web-based epilepsy conference) E-Neuropsych E-Processing E-Eligibility Model of sustained development Exchange program Final conference
16
17 Summary EpiCARE showcase The epilepsies: a group of rare diseases for which targeted treatment are possible Vison: deliver highly-specialized care to improve diagnosis and outcome in individuals with rare and complex epilepsies Multidisciplinary epilepsy surgery case discussions: European collaboration has already improved care for individual patients and their families
18 ERN EpiCARE A European Reference Network for Rare and Complex Epilepsies J Helen Cross Coordinator, Great Ormond Street Hospital, London
A European Reference Network for rare and complex epilepsies. J Helen Cross Coordinator
A European Reference Network for rare and complex epilepsies J Helen Cross Coordinator The epilepsies a group of rare diseases Early myoclonic encephalopathy PIGA, SETBP1, SIK1, SLC25A22 Dravet syndrome
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