SE-ATLAS

Versorgungsatlas für Menschen mit seltenen Erkrankungen


Nachfolgend finden Sie die Erkrankungen, die von dieser Patientenorganisation vertreten werden
15q13.3 microdeletion syndrome ARX-related epileptic encephalopathy Absencen-Epilepsie des Kindesalters Acquired porencephaly Action myoclonus-renal failure syndrome Acute disseminated encephalomyelitis Acute encephalopathy with biphasic seizures and late reduced diffusion Acute encephalopathy with inflammation-mediated status epilepticus Adolescent-onset epilepsy syndrome Adult neuronal ceroid lipofuscinosis Aicardi syndrome Atherosklerose-Schwerhörigkeit-Diabetes-Epilepsie-Nephropathie-Syndrom Atypical Rett syndrome Audiogenic seizures Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency Autosomal dominant epilepsy with auditory features Autosomal dominant nocturnal frontal lobe epilepsy Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency Autosomal recessive frontotemporal pachygyria Benign adult familial myoclonic epilepsy Benign childhood occipital epilepsy, Gastaut type Benign childhood occipital epilepsy, Panayiotopoulos type Benign familial infantile epilepsy Benign familial mesial temporal lobe epilepsy Benign familial neonatal epilepsy Benign focal seizures of adolescence Benign idiopathic neonatal seizures Benign infantile focal epilepsy with midline spikes and waves during sleep Benign infantile seizures associated with mild gastroenteritis Benign non-familial infantile seizures Benign occipital epilepsy Benign partial epilepsy of infancy with complex partial seizures Benign partial epilepsy with secondarily generalized seizures in infancy Benign partial infantile seizures Bilateral generalized polymicrogyria Bilateral parasagittal parieto-occipital polymicrogyria Bilateral polymicrogyria CLN1 disease CLN10 disease CLN11 disease CLN13 disease CLN2 disease CLN4A disease CLN4B disease CLN5 disease CLN6 disease CLN7 disease CLN8 disease CLN9 disease CNTNAP2-assoziierte entwicklungsbedingte und epileptische Enzephalopathie Celiac disease-epilepsy-cerebral calcification syndrome Central bilateral macrogyria Cerebral diseases of vascular origin with epilepsy Cerebral malformation with epilepsy Childhood-onset epilepsy syndrome Chromosomenanomalie mit Epilepsie als Hauptmerkmal Colorado tick fever Congenital neuronal ceroid lipofuscinosis Congenital rubella syndrome Congenital toxoplasmosis Continuous spikes and waves during sleep Corpus callosum agenesis-abnormal genitalia syndrome Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation Cryptogenic late-onset epileptic spasms DEND syndrome Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome Dravet syndrome Dysplasie, kortikale zerebrale EAST syndrome Early infantile epileptic encephalopathy Early-onset Lafora body disease Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome Early-onset progressive encephalopathy with migrant continuous myoclonus Eastern equine encephalitis Eating reflex epilepsy Encephalitis lethargica Enzephalopathie mit Neuroserpin-Einschlüssen, familiäre Form Enzephalopathie, frühkindliche myoklonische Epilepsie mit Intelligenzminderung, auf das weibliche Geschlecht beschränkt Epilepsy syndrome Epilepsy with eyelid myoclonia Epilepsy with myoclonic absences Epilepsy-telangiectasia syndrome Epileptic encephalopathy with global cerebral demyelination Familial focal epilepsy with variable foci Familial mesial temporal lobe epilepsy with febrile seizures Familial partial epilepsy Familial porencephaly Familial temporal lobe epilepsy Febrile infection-related epilepsy syndrome Fetal cytomegalovirus syndrome Focal epilepsy-intellectual disability-cerebro-cerebellar malformation Generalized epilepsy with febrile seizures-plus Generalized epilepsy-paroxysmal dyskinesia syndrome Hemimegalencephaly Hereditary neurocutaneous malformation Herpes simplex virus encephalitis Heterotopie, neuronale noduläre Heterotopie, noduläre periventrikuläre Holoprosencephaly Holoprosenzephalie, alobäre Holoprosenzephalie, mikroforme Hot water reflex epilepsy Hyper-beta-alaninemia Hyperekplexie - Epilepsie Hypothalamus-Hamartom mit gelastischen Anfällen Idiopathic hemiconvulsion-hemiplegia syndrome Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes Incontinentia pigmenti Infantile Krampfanfälle - breite Daumen Infantile convulsions and choreoathetosis Infantile epilepsy syndrome Infantile epileptic-dyskinetic encephalopathy Infantile neuronal ceroid lipofuscinosis Infantile spasms syndrome Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression Infectious disease with epilepsy Inflammatory and autoimmune disease with epilepsy Intermediate DEND syndrome Ionenkanalkrankheit mit Epilepsie Isolated focal cortical dysplasia type I Isolated focal cortical dysplasia type II Ito hypomelanosis Japanische Enzephalitis Juvenile absence epilepsy Juvenile myoclonic epilepsy Juvenile neuronal ceroid lipofuscinosis KDM5C-related syndromic X-linked intellectual disability Kleefstra syndrome due to 9q34 microdeletion Klüver-Bucy syndrome Konstitutionelle megaloblastäre Anämie mit schwerer neurologischer Krankheit Kortikale Dysplasie, isolierte fokale La Crosse encephalitis Lafora disease Landau-Kleffner syndrome Late infantile neuronal ceroid lipofuscinosis Lennox-Gastaut syndrome Leukoenzephalitis, sklerosierende subakute Limbic encephalitis associated with antibodies to cell membrane antigens Limbic encephalitis with DPP6 antibodies Limbic encephalitis with caspr2 antibodies Limbic encephalitis with nCMAgs antibodies Limbische Enzephalitis Limbische Enzephalitis mit LGI1-Antikörpern Limbische Enzephalitis, akute, nicht herpetische Limbische Enzephalitis, nicht-paraneoplastische Limbische Enzephalitis, paraneoplastische, klassische Form Lissencephaly Lobar holoprosencephaly MERRF Malignant migrating focal seizures of infancy Meningokokkenmeningitis Mesial temporal lobe epilepsy with hippocampal sclerosis Microlissencephaly-micromelia syndrome Micturation-induced seizures Midline interhemispheric variant of holoprosencephaly Mikrodeletionssyndrom 17q11 Monogenic disease with epilepsy Morvan syndrome Moynahan syndrome Mycoplasma encephalitis Myoclonic epilepsy in non-progressive encephalopathies Myoclonic epilepsy of infancy Myoclonic-astatic epilepsy Myoklonusepilepsie, infantile familiäre NMDA-Rezeptor-Enzephalitis Neonatal epilepsy syndrome Neurocutaneous syndrome with epilepsy Neuroektodermale melanolysosomale Krankheit Neurofibromatosis type 1 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion New-onset refractory status epilepticus Non-syndromic cerebral malformation due to abnormal neuronal migration OBSOLETE: CLN3 disease Oculocerebrocutaneous syndrome Okzipitale Pachygyrie und Polymikrogyrie Orgasm-induced seizures PEHO syndrome PEHO-ähnliches Syndrom Pachygyria-intellectual disability-epilepsy syndrome Paraneoplastic limbic encephalitis Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome Partington syndrome Periorale Myoklonie mit Absencen Photosensitive epilepsy Pneumococcal meningitis Polymikrogyrie Polymikrogyrie, bilaterale frontale Polymikrogyrie, bilaterale frontoparietale Polymikrogyrie, bilaterale perisylvische Polymikrogyrie, hemisphärische unilaterale Porenzephalie Posttransplant acute limbic encephalitis Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome Progressive epilepsy-intellectual disability syndrome, Finnish type Progressive myoclonic epilepsy Progressive myoclonic epilepsy type 1 Progressive myoclonic epilepsy type 3 Progressive myoclonic epilepsy type 5 Progressive myoclonic epilepsy type 6 Progressive myoclonic epilepsy with dystonia Proteus syndrome Rare epilepsy Rasmussen subacute encephalitis Reading seizures Reflex epilepsy Rett syndrome Ring chromosome 20 syndrome Ringchromosom-14-Syndrom Rolandic epilepsy Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome Rolandic epilepsy-speech dyspraxia syndrome Rubella panencephalitis Schizencephaly Selbstlimitierende neonatale und infantile Epilepsie Semilobar holoprosencephaly Septopreoptic holoprosencephaly Severe neonatal-onset encephalopathy with microcephaly Solitary median maxillary central incisor syndrome St. Louis encephalitis Startle epilepsy Stoffwechselstörung mit Epilepsie Sturge-Weber-Syndrom Sub-cortical nodular heterotopia Subcortical band heterotopia Subependymal nodular heterotopia Thiamine-responsive encephalopathy Thinking seizures Tuberous sclerosis complex Unilateral focal polymicrogyria Unilateral polymicrogyria W syndrome West-Nile encephalitis Westliche Pferdeenzephalitis X-chromosomale Spastik-Intelligenzminderung-Epilepsie-Syndrom X-linked dominant intellectual disability-epilepsy syndrome X-linked epilepsy-learning disabilities-behavior disorders syndrome X-linked intellectual disability, Hedera type X-linked intellectual disability-epilepsy syndrome X-linked lissencephaly with abnormal genitalia Zeckenenzephalitis