Please select your condition of interest

Please select the condition of interest to you

  • Dravet
    Syndrome
  • Lennox-Gastaut Syndrome
  • Tuberous
    Sclerosis
    Complex
  • Infantile
    Spasms
  • SUDEP
Dravet Syndrome

About Dravet Syndrome

What is it?

Dravet syndrome (DS) is a rare, treatment-resistant and severe type of epilepsy that typically begins within the first year of life with frequent and/or prolonged seizures.1,6

How common is it?

Dravet syndrome, also known as Severe Myoclonic Epilepsy of Infancy (SMEI), occurs in roughly

SCN1A Gene Mutation Graphic

Features of DS

  • Recurrent and prolonged seizures (tonic-clonic, hemiconvulsive, and myoclonic)1
  • Seizures typically begin in the first year of life6
  • High body temperature, often associated with illness or fever following vaccinations, triggers seizures1,6
  • Additional neurological issues (cognitive, crouched gait, low muscle tone, and eye coordination) usually appear between 1 to 5 years of age1,8

References:

  1. Dravet C. The core Dravet syndrome phenotype. Epilepsia. 2011;52(suppl 2):3-9.
  2. Arzimanoglou A, French J, Blume WT, et al. Lennox-Gastaut syndrome: a consensus approach on diagnosis, assessment, management, and trial methodology. Lancet Neurol. 2009;8(1):82-93.
  3. Kingswood JC, d’Augères GB, Belousova E, et al; TOSCA consortium and TOSCA investigators. TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients. Orphanet J Rare Dis. 2017;12(2):1-13.
  4. Go CY, Mackay MT, Weiss SK, et al; Child Neurology Society; American Academy of Neurology. Evidence-based guideline update: medical treatment of infantile spasms. Neurology. 2012;78(24):1974-1980.
  5. Arzimanoglou A, Resnick T. All children who experience epileptic falls do not necessarily have Lennox-Gastaut syndrome…but many do. Epileptic Disord. 2011;13(suppl 1):S3-S13.
  6. van Dam VS, Korff CM. Dravet syndrome: an update. Swiss Arch Neurol Psychiatr. 2013;164(5):153-157.
  7. Wu YW, Sullivan J, McDaniel SS, et al. Incidence of Dravet syndrome in a US population. Pediatrics. 2015;136(5):e1310-e1315.
  8. Wirrell EC. Treatment of Dravet syndrome. Can J Neurol Sci. 2016;43(suppl 3):S13-S18.
Lennox-Gastaut Syndrome

About Lennox-Gastaut Syndrome

What is it?

Lennox-Gastaut syndrome (LGS) is a type of epilepsy with multiple kinds of seizures, including tonic (stiffening) and atonic (loss of muscle tone), as well as others. Drop seizures occur in at least 50% of patients2,7,8

Who gets it?

4% of Children with Epilepsy are Diagnosed with LGS

Known causes include, but are not limited to, brain injury or infections. No genetic marker has been identified2

Features of LGS

  • Typically occurs between 2 to 8 years of age2,8,11
  • Frequent, sometimes daily seizures which may interfere with how the brain works12-16
  • Most LGS seizures are tonic and occur while sleeping2-5,13
  • Cognitive impairment, developmental delays, and behavioral problems2,8
  • A characteristic pattern on EEG (a test that measures and records brain waves), called slow spike-wave complexes2,5,8
  • 80%-90% of children diagnosed with LGS will continue having seizures into their adult years.8,11,13

References:

  1. Dravet C. The core Dravet syndrome phenotype. Epilepsia. 2011;52(suppl 2):3-9.
  2. Arzimanoglou A, French J, Blume WT, et al. Lennox-Gastaut syndrome: a consensus approach on diagnosis, assessment, management, and trial methodology. Lancet Neurol. 2009;8(1):82-93.
  3. Kingswood JC, d’Augères GB, Belousova E, et al; TOSCA consortium and TOSCA investigators. TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients. Orphanet J Rare Dis. 2017;12(2):1-13.
  4. Go CY, Mackay MT, Weiss SK, et al; Child Neurology Society; American Academy of Neurology. Evidence-based guideline update: medical treatment of infantile spasms. Neurology. 2012;78(24):1974-1980.
  5. Arzimanoglou A, Resnick T. All children who experience epileptic falls do not necessarily have Lennox-Gastaut syndrome…but many do. Epileptic Disord. 2011;13(suppl 1):S3-S13.
  6. van Dam VS, Korff CM. Dravet syndrome: an update. Swiss Arch Neurol Psychiatr. 2013;164(5):153-157.
  7. Chevrie JJ, Aicardi J. Childhood epileptic encephalopathy with slow spike-wave: a statistical study of 80 cases. Epilepsia. 1972;13(2):259-272.
  8. Bourgeois BFD, Douglass LM, Sankar R. Lennox-Gastaut syndrome: a consensus approach to differential diagnosis. Epilepsia. 2014;55(suppl 4):4-9.
  9. Trevathan E, Murphy CC, Yeargin-Allsopp M. Prevalence and descriptive epidemiology of Lennox-Gastaut syndrome among Atlanta children. Epilepsia. 1997;38(12):1283-1288.
  10. Markand ON. Slow spike-wave activity in EEG and associated clinical features: often called “Lennox” or “Lennox-Gastaut” syndrome. Neurology. 1977;27(8):746-757.
  11. van Rijckevorsel K. Treatment of Lennox-Gastaut syndrome: overview and recent findings. Neuropsychiatr Dis Treat. 2008;4(6):1001-1019.
  12. Borggraefe I, Noachtar S. Pharmacotherapy of seizures associated with Lennox-Gastaut syndrome. Clin Med Insights Ther. 2010;2:15-24.
  13. Panayiotopoulos CP. Epileptic encephalopathies in infancy and early childhood in which the epileptiform abnormalities may contribute to progressive dysfunction. In: The Epilepsies: Seizures, Syndromes and Management. Oxfordshire, UK: Bladon Medical Publishing; 2005:137-206.
  14. Oguni H, Hayashi K, Osawa M. Long-term prognosis of Lennox-Gastaut syndrome. Epilepsia. 1996;37(suppl 3):44-47.
  15. Kerr M, Kluger G, Philip S. Evolution and management of Lennox-Gastaut syndrome through adolescence and into adulthood: are seizures always the primary issue? Epileptic Disord. 2011;13(suppl 1):S15-S26.
  16. Piña-Garza JE, Chung S, Montouris GD, Radtke RA, Resnick T, Wechsler RT. Challenges in identifying Lennox-Gastaut syndrome in adults: a case series illustrating its changing nature. Epilepsy Behav Case Rep. 2016;5:38-43.
Tuberous Sclerosis Complex

About Tuberous Sclerosis Complex

What is it?

Tuberous Sclerosis Complex (TSC) is a genetic disorder that causes tumors to form in many different organs, primarily in the brain, eyes, heart, kidney, skin, and lungs.7 Seizures of many types may occur, including infantile spasms, tonic-clonic seizures, tonic, akinetic, and myoclonic.8

Who gets it?

1 in 6000 Infants are Born with TSC

Features of TSC

  • Seizures occur in 80% of individuals with TSC3
  • Noncancerous tumors in the brain8
  • Noncancerous fatty tumors are found in over 80% of patients with TSC (most commonly in the liver, but can occur in other organs)7
  • Changes to the skin, including lesions, leathery patches, and white spots8
  • Lesions involving the retina7
  • Cardiac tumors7
  • Lung disease in up to 40% of women with TSC7

References:

  1. Dravet C. The core Dravet syndrome phenotype. Epilepsia. 2011;52(suppl 2):3-9.
  2. Arzimanoglou A, French J, Blume WT, et al. Lennox-Gastaut syndrome: a consensus approach on diagnosis, assessment, management, and trial methodology. Lancet Neurol. 2009;8(1):82-93.
  3. Kingswood JC, d’Augères GB, Belousova E, et al; TOSCA consortium and TOSCA investigators. TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients. Orphanet J Rare Dis. 2017;12(2):1-13.
  4. Go CY, Mackay MT, Weiss SK, et al; Child Neurology Society; American Academy of Neurology. Evidence-based guideline update: medical treatment of infantile spasms. Neurology. 2012;78(24):1974-1980.
  5. Arzimanoglou A, Resnick T. All children who experience epileptic falls do not necessarily have Lennox-Gastaut syndrome…but many do. Epileptic Disord. 2011;13(suppl 1):S3-S13.
  6. van Dam VS, Korff CM. Dravet syndrome: an update. Swiss Arch Neurol Psychiatr. 2013;164(5):153-157.
  7. Northrup H, Krueger DA; International Tuberous Sclerosis Complex Consensus Group. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 2013;49(4):243-254.
  8. NIH National Institute of Neurological Disorders and Stroke. Tuberous Sclerosis Fact Sheet. www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Tuberous-Sclerosis-Fact-Sheet. Accessed June 11, 2019.
Infantile Spasms

About Infantile Spasms

What is it?

Infantile Spasms, also called IS, is a rare epilepsy-related seizure disorder seen in early infancy. The average age of onset is under the age of 1, and about one-fourth of infants with this disorder will stop having seizures within 1 year of their first seizure.4, 7‑10

The most frequent type of spasms associated with this disorder can be repetitive, often subtle, movements of the neck, upper body, arms, and legs, which are balanced on both the left and right sides of the body.7

They can occur in clusters, or not very spaced out, but rarely occur during sleep.7

The locations of these spasms and their intensity can vary greatly.7

Parents and caregivers are encouraged to make video recordings of any suspected symptoms to share with their physician.

To watch video examples, visit the Child Neurology Foundation Website

Who gets it?

1 in 1200 Infants are Affected by Infantile Spasms

Features of IS

  • Can be hard to diagnose because it is challenging to tell a spasm from normal infant movement7
  • Infants between 3 and 10 months of age are often diagnosed after they are observed having 1-second-long jerking head and arm spasms or head bobbing12
  • Often accompanied by developmental delays if left untreated12
  • 1-7% of cases occur in infants with a family history of epilepsy7
  • The disorder can be categorized as epileptic spasms, which most often happen upon awakening12
  • Nearly 50% of children with IS also have a prenatal cause such as Tuberous Sclerosis Complex (TSC)8
  • Patients with infantile spasms will have abnormal patterns on an electroencephalogram or EEG7

SLEEP

Rare Epilepsy and Sleep

The Science of Sleep

 

Rama Maganti, MD

Rare Epilepsy and Sleep

References:

  1. Dravet C. The core Dravet syndrome phenotype. Epilepsia. 2011;52(suppl 2):3-9.
  2. Arzimanoglou A, French J, Blume WT, et al. Lennox-Gastaut syndrome: a consensus approach on diagnosis, assessment, management, and trial methodology. Lancet Neurol. 2009;8(1):82-93.
  3. Kingswood JC, d’Augères GB, Belousova E, et al; TOSCA consortium and TOSCA investigators. TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients. Orphanet J Rare Dis. 2017;12(2):1-13.
  4. Go CY, Mackay MT, Weiss SK, et al; Child Neurology Society; American Academy of Neurology. Evidence-based guideline update: medical treatment of infantile spasms. Neurology. 2012;78(24):1974-1980.
  5. Arzimanoglou A, Resnick T. All children who experience epileptic falls do not necessarily have Lennox-Gastaut syndrome…but many do. Epileptic Disord. 2011;13(suppl 1):S3-S13.
  6. van Dam VS, Korff CM. Dravet syndrome: an update. Swiss Arch Neurol Psychiatr. 2013;164(5):153-157.
  7. Hrachovy RA, Frost JD Jr. Infantile spasms. Handb Clin Neurol. 2013;111:611-618.
  8. Pellock JM, Hrachovy R, Shinnar S, et al. Infantile spasms: a U.S. consensus report. Epilepsia. 2010;51(10):2175-2189.
  9. Hattori H. Spontaneous remission of spasms in West syndrome: implications of viral infection. Brain Dev. 2001;23(7):705-707.
  10. Hrachovy RA, Glaze DG, Frost JD Jr. A retrospective study of spontaneous remission and long-term outcome in patients with infantile spasms. Epilepsia. 1991;32(2):212-214.
  11. Martin JA, Hamilton BE, Osterman MJK, Driscoll AK, Drake P. Births: final data for 2016. Natl Vital Stat Rep. 2018;67(1):1-55.
  12. Kossoff EH. Infantile spasms. Neurologist. 2010;16(2):69-75.
SUDEP

About SUDEP

What is it?

SUDEP—or Sudden Unexpected Death in Epilepsy—is the most common epilepsy-related cause of death. And just as its name states, deaths due to SUDEP are unexpected and occur in individuals with epilepsy who are otherwise healthy.7,8

In SUDEP cases, no other cause of death can be found, and the death is not known to be related to an accident or seizure emergency such as status epilepticus.8

There remains a lot that is unknown about SUDEP, including its cause. Research is currently being done to better define and understand it.

We do know that SUDEP happens more often at night and may occur when there are problems with breathing, heartbeat, and brain function after a seizure.8,9

Who gets it?

SUDEP Occurs in 1 Out of Every 1000 People with Epilepsy

The greatest risk factors for SUDEP include uncontrolled or refractory epilepsy and tonic-clonic (or grand mal) seizures.7

Other risk factors are thought to exist, some of which include7:

  • Not taking medications regularly or as prescribed
  • Stopping or changing medications suddenly
  • Being a young adult (20 to 40 years of age)
  • Having an intellectual disability (IQ<70)
  • Seizures that happen during sleep
  • Onset of epilepsy at a young age

How can you reduce the risk?

It’s important to understand that the risk of SUDEP isn’t the same for everyone.

Because of this, it’s crucial that you talk to your doctor to determine your risk for SUDEP and find the best ways to manage your risk.

The best way to reduce the risk of SUDEP is to have as few seizures as possible.

There are additional suggestions that your doctor may provide7:

  • Take seizure medications regularly and at the right dose
  • Know what triggers your or your loved one’s seizures and adjust lifestyle and/or environment to avoid them
  • Getting enough sleep
  • Keeping stress levels low
  • Be seizure safe by learning seizure first aid
  • Track your seizures in a diary that you can share with your doctor to develop and help optimize your treatment plan
  • Since SUDEP occurs most often during sleep, consider a seizure-detection device that can work throughout the night, detecting certain seizures, and alerting you to take action

References:

  1. Dravet C. The core Dravet syndrome phenotype. Epilepsia. 2011;52(suppl 2):3-9.
  2. Arzimanoglou A, French J, Blume WT, et al. Lennox-Gastaut syndrome: a consensus approach on diagnosis, assessment, management, and trial methodology. Lancet Neurol. 2009;8(1):82-93.
  3. Kingswood JC, d’Augères GB, Belousova E, et al; TOSCA consortium and TOSCA investigators. TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients. Orphanet J Rare Dis. 2017;12(2):1-13.
  4. Go CY, Mackay MT, Weiss SK, et al; Child Neurology Society; American Academy of Neurology. Evidence-based guideline update: medical treatment of infantile spasms. Neurology. 2012;78(24):1974-1980.
  5. Arzimanoglou A, Resnick T. All children who experience epileptic falls do not necessarily have Lennox-Gastaut syndrome…but many do. Epileptic Disord. 2011;13(suppl 1):S3-S13.
  6. van Dam VS, Korff CM. Dravet syndrome: an update. Swiss Arch Neurol Psychiatr. 2013;164(5):153-157.
  7. Devinsky O. Sudden, unexpected death in epilepsy. N Engl J Med. 2011;365(19):1801-1811.
  8. Tomson T, Nashef L, Ryvlin P. Sudden unexpected death in epilepsy: current knowledge and future directions. Lancet Neurol. 2008;7(11):1021-1031.
  9. Lamberts RJ, Thijs RD, Laffan A, Langan Y, Sander JW. Sudden unexpected death in epilepsy: people with nocturnal seizures may be at highest risk. Epilepsia. 2012;53(2):253-257.
  10. Harden C, Tomson T, Gloss D, et al. Practice guideline summary: sudden unexpected death in epilepsy incidence rates and risk factors: report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the American Epilepsy Society. Neurology. 2017;88(17):1674-1680.

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