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Diagnoslista/länkar

Listor över diagnoser som expertteamet ansvarar för.

  • 15q13.3 microdeletion syndrome
  • 1p36 deletion syndrome epilepsy
  • Alternating Hemiplegia of Childhood (ATP1A3)
  • Angelman syndrome
  • CDKL5 (Cyclin-dependent kinase-like) deficiency disorder
  • Down syndrome related epilepsy
  • Dravet syndrome (SCN1A)
  • FOXG1 related epilepsies
  • Fragile X related epilepsy
  • GRIN2A related epilepsies
  • GRIN2B
  • Inversion-duplication chromosome 15q11
  • KCNQ2 related epilepsies
  • KCNT1 related epilepsies
  • Pallister-Killian syndrome related epilepsy
  • Progressive Myoclonic Epilepsies
  • Protocadherin-19 (PCDH19) related epilepsy
  • Rett syndrome (MECP2)
  • Ring Chromosome 14
  • Ring Chromosome 20
  • SCN1A related epilepsies (other than Dravet Sd)
  • SCN8A related epilepsies
  • SYNGAP1 related epilepsies
  • Genetic epilepsy not otherwise identified
  • Herpes simplex encephalitis
  • CMV encephalitis
  • Other Infectious-related encephalitis with epilepsy
  • Acute Febrile Epileptic Encephalopathy
  • Anti-NMDA receptor limbic encephalitis
  • Autoimmune encephalitis
  • Febrile Infection-Related Epilepsy Syndrome (FIRES)
  • GABA-A receptor antibody mediated immune epilepsy
  • GABA-B receptor antibody mediated immune epilepsy
  • GAD- antibody mediated immune epilepsy
  • Glycine receptor antibody mediated immune epilepsy
  • MOG-antibody mediated immune epilepsy
  • NORSE
  • Rasmussen encephalitis
  • Non-specified antibody related immune epilepsy
  • Other antibody related immune epilepsies
  • Angiocentric Glioma (ANET)
  • Arteriovenous malformation
  • Astrocytoma Variants
  • Cerebellar hamartoma
  • Cerebral Angioma with epilepsy
  • Dysembryoplastic Neuroepithelial Tumor (DNET)
  • Focal Cortical dysplasias
  • Ganglioglioma (GG)
  • Hemimegalencephaly
  • Hippocampal Sclerosis
  • Hypothalamic Hamartoma
  • Incontinentia Pigmenti
  • Ito Hypomelanosis
  • Lissencephaly
  • Neurofibromatosis type 1
  • Periventricular Nodular Heterotopia
  • Polymicrogyria
  • Stroke (Haemorrhagic)
  • Stroke (Ischemic)
  • Sturge Weber syndrome
  • Subcortical band heterotopias
  • Tuberous sclerosis Complex
  • Lesional (Structural) epilepsy not otherwise identified
  • Focal cortical dysplasias
  • Hypothalamic Hamartoma
  • Hemimegalancephaly
  • Low-grade developmental and epilepsy associated brain tumors (LEAT)
  • Cerebral cavernous malformations
  • MTLE with hippocampal sclerosis
  • Sturge-Weber syndrome
  • Other lesional (structural) epilepsies
  • Pyridoxine dependent seizures (ALDH7A1)
  • Inborn Errors of Creatine Metabolism (including GAMT)
  • Molybdenum Cofactor Deficiency
  • POLG related epilepsies
  • Glucose transporter type 1 deficiency
  • Biotinidase deficiency
  • Mitochondrial diseases with epilepsy
  • Metabolic epilepsy not otherwise identified
  • Neonatal hypoxic and ischemic brain injury
  • Paediatric arterial ischemic stroke
  • Acute neonatal citrullinemia type 1
  • Neonatal glycine encephalopathy
  • Pyridoxal phosphate-responsive seizures
  • Pyridoxine-dependent epilepsy
  • Self-Limited Neonatal Epilepsies (Familial or not)
  • Other Neonatal Epilepsies
  • Self-Limited Neonatal and Infantile Epilepsies
  • Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep
  • Drug-resistant Adolescent Absence Epilepsy
  • Drug-resistant Adolescent Absence Epilepsy
  • Drug-resistant Childhood Absence Epilepsy
  • Drug-resistant Juvenile Myoclonic Epilepsy
  • Early-infantile Developmental and Epileptic Encephalopathy
  • Epilepsy of Infancy with Migrating Focal Seizures
  • Epilepsy with Generalized Tonic-Clonic seizures only
  • Epilepsy with Myoclonic Absences (E-MA)
  • Hemiconvulsion-Hemiplegia-Epilepsy (HHE)
  • Infantile Spasms syndrome (West syndrome)
  • Landau-Kleffner syndrome
  • Lennox-Gastaut syndrome (LGS)
  • Myoclonic Atonic Epilepsy (MAE)
  • Photosensitive Occipital Lobe Epilepsy (POLE)
  • Epilepsy with Eylid Myoclonia (E-EM)
  • Sleep-related Hypermotor Epilepsies
  • New-onset refractory status epilepticus (NORSE)
  • Acute encephalopathy with Inflammation-mediated status epilepticus
  • Continuous Spike-Waves during Slow Sleep
  • Febrile Infection-Related Epilepsy Syndrome (FIRES)
  • Non-Convulsive Status Epilepticus

Senast uppdaterad: 2023-09-05 14:15