Tuberous Sclerosis Complex
By: Andrew Yee What Is Tuberous Sclerosis? Tuberous Sclerosis is a lifelong genetic disorder with about one million cases worldwide that can take many years to develop and show symptoms. Also known as Tuberous sclerosis complex (TSC), it is an uncommon genetic disorder that causes noncancerous tumors to grow throughout your body. Symptoms vary widely […]
Doose Syndrome
By: Dr. Sharon Elza Raju What is Doose Syndrome? Doose Syndrome is a very rare type of seizure that affects children during early childhood. It was initially known as Myoclonic Astatic Epilepsy and Myoclonic Atonic Epilepsy. Back in 1989, the International League Against Epilepsy (ILAE) initially classified it as symptomatic generalized epilepsy. Considering it to […]
West Syndrome
By: Natalie L. Boehm, MBA, RBLP-T West Syndrome By: Natalie L. Boehm, MBA, RBLP-T What is West Syndrome According to the Genetic and Rare Diseases Information Center, West syndrome is caused by hypsarrhythmia (chaotic brain waves) that is seen in infantile spasms in infants and children. Infantile spasms start occurring between four to eight months […]
Periventricular Heterotopia
By: Natalie L. Boehm, MBA, RBLP-T What is Periventricular Heterotopia?Periventricular heterotopia, also known as periventricular nodular heterotopia, is a condition in which nerve cells do not migrate properly during the early development of the fetal brain (GARD, 2021). Causes Periventricular heterotopia is caused by malfunctioning of one of more of the following genes: ARFGEF2, FLNA, […]
Neuronal Ceroid Lipofuscinoses
By: Imogen Ronde What is Neuronal Ceroid Lipofuscinoses? Neuronal Ceroid Lipofuscinoses are a group of rare disorders of the nerve cells. They include Kufs or Parry disease, Batten disease, and Jansky-Bielschowsky disease (Neuronal ceroid lipofuscinoses (NCL): Medlineplus medical encyclopedia). Neuronal Ceroid Lipofuscinoses are classified by the affected gene, which can be any one of […]
Unverricht-Lundborg Disease
By: Imogen Ronde What is Unverricht-Lundborg Disease? Unverricht-Lundborg Disease is a type of progressive myoclonus epilepsy. While rare, it is the most common single cause of progressive myoclonus epilepsy (Joensuu et al, 2007). It has a late childhood and early adolescent onset, with a peak around ages 12-13 (Crespel et al, 2016). History: Unverricht-Lundborg Disease […]
Lennox-Gastaut Syndrome
By: Imogen Ronde By: Imogen Ronde What is Lennox-Gastaut Syndrome? Lennox-Gastaut Syndrome is a rare and severe form of epilepsy which occurs in an estimated 1-10% of all childhood epilepsies (Camfield, 2011). Age of onset ranges from 1-7 years (Crumrine, 2002), however there is also a peak age of onset between three and five […]
Angelman Syndrome
By: Dr. Sharon Elza Raju, BDS, LSSGB, PMEC What is Angelman Syndrome? According to Mayo Clinic, Angelman Syndrome is defined as a genetic disorder, which could cause delayed development, intellectual disability, problem concerning the speech and balance and seizures (Mayo Clinic). It is considered to be caused by a loss of function of the UBE3A […]
Aicardi Syndrome
By: Maura Toner What is Aicardi Syndrome? Aicardi syndrome is a rare neurogenetic disorder that affects 1 in 100,000 to 1 in 150,000 live births. Children born with Aicardi syndrome experience developmental delays, brain abnormalities and seizures, and often have very typical eye abnormalities, among other features. Another prominent feature of Aicardi syndrome is presence […]
Dravet Syndrome
By: Natalie L. Boehm, MBA, RBLP-T What is Dravet Syndrome? According to the Dravet Syndrome Foundation, Dravet Syndrome, also known as Severe Myoclonic Epilepsy of Infancy (SMEI), is a rare form of retractable epilepsy that begins in infancy. Dravet Syndrome then proceeds with accumulating morbidity that significantly impacts individuals throughout their lifetime (Dravet Syndrome Foundation, […]