Landau-Kleffner Syndrome

By:  Rahima Olatinwo What is Landau-Kleffner Syndrome? Landau-Kleffner Syndrome (LKS) or Acquired Epileptic Aphasia is an age-related disorder that affects children with no prior developmental disorder. Only a few hundred cases have been reported, making it a very rare condition. Its defining characteristics are the regression of speech and language comprehension and seizures that occur […]

Angelman Syndrome

By:  Catherine Joachin What is Angelman syndrome? Angelman syndrome (AS) is a genetic condition characterized by developmental delays,  underdeveloped speech, ataxia, and seizures (Cleveland Clinic., n.d.). It affects around 500,000  people globally and emerges as a result of UBE3A dysfunction (Angelman Syndrome  Foundation, n.d.). The condition was first described by Dr. Harry Angelman in 1965 […]

Jeavons Syndrome

By:  Rahima Olatinwo What is Jeavons syndrome? Jeavons syndrome or epilepsy with eyelid myoclonia (EEM) is a rare, generalized epilepsy condition that results in rapid eyelid twitching. The Genetics of Jeavons syndrome Jeavons syndrome is idiopathic, so the causes are not known. However, it is believed to be a genetic condition. People diagnosed with Jeavons […]

Panayiotopoulos Syndrome: A Close Examination of Idiopathic Epilepsy

By:  Nazneen Khan Introduction Epilepsy is a neurological disorder that affects about 3.4 million people. Panayiotopoulos Syndrome (PS) is a type of benign epileptic disorder most commonly diagnosed among children. Distinct autonomic symptoms such as emesis along with localization in the occipital region of the brain during an EEG are found in PS patients. Although […]

Rett Syndrome

By:  Rahima Olatinwo What is Rett syndrome? Rett syndrome (RTT) is a rare neurological disorder that negatively affects intellectual, speech, and motor development. The Genetics of Rett Syndrome Rett syndrome is primarily caused by a genetic mutation of the MECP2 gene. The MECP2 gene encodes for a protein necessary for the proper development of the […]

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 […]