About epilepsies

A few words about epilepsies and their complexities

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. Rare epilepsies affect nearly 5 people in 10,000 of the general population.

Epilepsy 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 such as video-electroencephalography, advanced neurodiagnostics including high resolution MRI, next generation sequencing in genetics and advanced metabolic diagnostics, an increasing number of individual diseases and syndromes have emerged.

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.

List of rare and complex epilepsies treated by EpiCARE:

Main Thematic Group	Related Rare Or Complex Disease(s), Condition(s)
Genetic epilepsies	Dravet (SCN1A) Angelman Ring Chromosome 20 Rett syndrome (MECP2) CDKL5 PCDH19 KCNq2 SCN8A lp36 deletion FOXG1 KCNT1 related epilepsies SCN1A related epilepsies (other than Dravet) Progressive Myoclonic Epilepsies Alternating Hemiplegia of Childhood SYNGAP1 related epilepsies GRIN2A related epilepsies GRIN2B Genetic epilepsy not otherwise identified *()**
Structural epilepsies	Tuberous sclerosis Lissencephaly Polymicrogyria Sturge Weber syndrome Periventricular Nodular Heterotopia Subcorticcal band heterotopias Lesional (Structural) epilepsy not otherwise identified *()**
Infectious epilepsies	Herpes simplex encephaliatis CMV encephalitis
Immune epilepsies	Autoimmune encephalitis Rasmussen encephalitis FIRES Anti-NMDA receptor limbic encephalitis Acute Febrile Epileptic Encephalopathy
Surgically treatable epilepsies	Focal cortical dysplasia Hypothalamic Hamartoma Hemimegalancephaly Gangliomgioma DNET Cerebral cavernous malformations MTLE with hippocampal sclerosis Lesional (Structural) epilepsy not otherwise identified *()**
Syndromic epilepsies	Benign familial neonatal seizures West syndrome Myoclonic astatic epilepsy Lennox Gastaut syndrome ESES/CSWS Migrating partial seizures of infancy LKS Juvenile Myoclonic Epilepsy Childhood Absence Epilepsy Adolescent Absence Epilepsy Epilepsy with Generalized Tonic-Clonic seizures only
Metabolic epilepsies	Pyridoxine dependent seizures (ALDH7A1) GAMT MOCOD PO LG Glucose transporter type 1 deficiency Biotinidase deficiency Mitochondrial disease Metabolic epilepsy not otherwise identified *()**
Neonatal seizures (acute)	Neonatal hypoxic and ischemic brain injury Paediatric arterial ischemic stroke
Neonatal seizures (metabolic)	Acute neonatal citrullinemia type 1 Neonatal glycine encephalopathy Pyridoxal phosphate-responsive seizures Pyridoxine-dependent epilepsy
Neonatal seizures (syndromic)	Neonatal epilepsy syndrome Benign familial neonatal epilepsy Benign familial neonatal-infantile seizures Benigh idiopathic neonatal seizures
Status epiletcus	New-onset refractory status epilepticus Acute encephalopathy with Inflammation-mediated status epilepticus CSWS (POCS) FIRES NON-CONVULSIVE STATUS EPILEPTICUS

(*) Important note: these rather “generic” diseases were introduced to allow us registering not yet genetically characterized epilepsies. Otherwise we lose the data of several rare and complex epilepsies