What is Epilepsy?

Epilepsy is a neurological disorder characterized by at least two unprovoked seizures occurring in close proximity or by one unprovoked seizure with a high probability of further seizures.

Reference:

1. Fisher RS, Acevedo C, Arzimanoglou A, et al. ILAE official report: a practical clinical definition of epilepsy. Epilepsia. 2014;55(4):475-482.

Dravet Syndrome

Dravet syndrome is a rare genetic epileptic encephalopathy (dysfunction of the brain). It begins in the first year of life in an otherwise healthy infant. Prior to 1989, this syndrome was known as epilepsy with polymorphic seizures, polymorphic epilepsy in infancy (PMEI), or severe myoclonic epilepsy in infancy (SMEI).

References:

1. Dravet C. The core Dravet syndrome phenotype. Epilepsia. 2011;52(suppl 2):3-9.

2. Guerrini R, Falchi M. Dravet syndrome and SCN1A gene mutation related-epilepsies: cognitive impairment and its determinants. Dev Med Child Neurol. 2011;53(suppl 2):11-15.

3. Catterall WA, Kalume F, Oakley JC. NaV1.1 channels and epilepsy. J Physiol. 2010;588(pt 11):1849-1859.

4. Akiyama M, Kobayashi K, Ohtsuka Y. Dravet syndrome: a genetic epileptic disorder. Acta Med Okayama. 2012;66(5):369-376.

Lennox-Gastaut Syndrome

Lennox-Gastaut syndrome (LGS) is a type of epilepsy with multiple seizure forms and characteristic slow spike wave EEG (during childhood). Intellectual development is usually, but not always, impaired. It is one of the more severe forms of epilepsy and is typically accompanied by developmental delay. Seizures are generally difficult to control due to their resistance to anti-epileptic drugs.

References:

1. Lennox WG, Davis JP. Clinical correlates of the fast and the slow spike-wave electroencephalogram. Pediatrics. 1950;5(4):626-644.

2. Gastaut H, Roger J, Soulayrol R, et al. Childhood epileptic encephalopathy with diffuse slow spike-waves (otherwise known as "petit mal variant") or Lennox syndrome. Epilepsia. 1966;7(2):139-179.

3. French JA, Kanner AM, Bautista J, et al. Therapeutics and Technology Assessment Subcommittee of the American Academy of Neurology; Quality Standards Subcommittee of the American Academy of Neurology; American Epilepsy Society. Efficacy and tolerability of the new antiepileptic drugs II: treatment of refractory epilepsy: report of the Therapeutics and Technology Assessment Subcommittee and Quality Standards Subcommittee of the American Academy of Neurology and the American Epilepsy Society. Neurology. 2004;62(8):1261-1273.

4. Niedermeyer E. The Lennox-Gastaut syndrome: a severe type of childhood epilepsy. Dtsch Z Nervenheilkd. 1969;195(4):263-282.

5. Bourgeois BF, Douglass LM, Sankar R. Lennox-Gastaut syndrome: a consensus approach to differential diagnosis. Epilepsia. 2014;55(suppl 4):4-9.

Tuberous Sclerosis Complex

Tuberous Sclerosis Complex (TSC) is a rare multisystem genetic disease that causes tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. Over 85% of patients with TSC have seizures. Common seizure types include infantile spasms, focal, tonic, tonic-clonic, atypical absence, and myoclonic.

References:

1. Chu-Shore CJ, Major P, Camposano S, Muzykewicz D, Thiele EA. The natural history of epilepsy in tuberous sclerosis complex. Epilepsia. 2010;51(7):1236-1241.

2. Goh S, Kwiatkowski DJ, Dorer DJ, et al. Infantile spasms and intellectual outcomes in children with tuberous sclerosis complex. Neurology. 2005;65:235-238.

3. Theile EA, Granata T, Matricardi S, Chugani HT. Transition into adulthood: tuberous sclerosis complex, Sturge Weber Syndrome and Rasmussen encephalitis. Epilepsia. 2014;55(suppl.3):29-33.

For more information on rare and severe childhood-onset epilepsy, visit the advocacy organization sites for these conditions.