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About Epilepsies

Rare and complex epilepsies
Genetic causes of rare and complex epilepsies, a rapidly evolving field of knowledge
  • The epilepsies are a group of heterogenous disorders across all ages, where epileptic seizures are the presenting symptom and have an impact on neurodevelopment, quality of life and mortality. They affect at least 6 million people in Europe; 65% individuals will respond to antiseizure drugs or enter spontaneous remission in their lifetime. Of the remaining two million, one third could benefit from a well conducted pre-surgical evaluation and epilepsy surgery. In addition, a significant number will have presented with a distinctive rare epilepsy syndrome/disease for which the prognosis for control of seizures and neurodevelopmental outcome is extremely poor. In short, rare and complex epilepsies affect nearly 5 people in 10,000 of the general population.
  • It is not viewed anymore as “a single disease”. With careful observation and description of the clinical manifestations (seizures) combined to an optimal use of diagnostic tools, an increasing number of individual diseases and syndromes have emerged. The tools include video-electroencephalography, advanced neurodiagnostics including high resolution MRI, next generation sequencing in genetics and advanced metabolic diagnostics.
  • Epilepsy can have its onset at all ages, from the newborn to the elderly, and has different aetiologies, symptoms, and outcomes that have been recognised over recent decades. We are now aware of in excess of 130 diseases recognised by a clear clinical presentation with or without clear aetiology. Early screening and, whenever possible, early diagnosis and the choice of the most appropriate treatments (medical or surgical) are of utmost importance.
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Related Rare or Complex Disease(s), Condition(s)
Genetic epilepsies 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
Structural 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
Infectious epilepsies • Herpes simplex encephalitis
• CMV encephalitis
• Other Infectious-related encephalitis with epilepsy
Immune epilepsies • 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
Surgically treatable epilepsies, subject to a pre-surgical evaluation • 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
Syndromic epilepsies • Self-Limited Neonatal and Infantile Epilepsies
• Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS)
• 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 Eyelid Myoclonia (E-EM)
• Sleep-related Hypermotor Epilepsies
Metabolic 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
Acute neonatal seizures • Neonatal hypoxic and ischemic brain injury
• Paediatric arterial ischemic stroke
Metabolic neonatal seizures • Acute neonatal citrullinemia type 1
• Neonatal glycine encephalopathy
• Pyridoxal phosphate-responsive seizures
• Pyridoxine-dependent epilepsy
Syndromic neonatal seizures • Self-Limited Neonatal Epilepsies (Familial or not)
• Other Neonatal Epilepsies
Status epilepticus • 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