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Specialty. Neurology. Dravet syndrome (DS), previously known as severe myoclonic epilepsy of infancy (SMEI), is an autosomal dominant genetic disorder which causes a catastrophic form of epilepsy, with prolonged seizures that are often triggered by hot temperatures or fever. [1] It is very difficult to treat with anticonvulsant medications.
Lennox–Gastaut syndrome (LGS) is a complex, rare, and severe childhood-onset epilepsy syndrome. It is characterized by multiple and concurrent seizure types including tonic seizure, cognitive dysfunction, and slow spike waves on electroencephalogram (EEG), which are very abnormal. [1] Typically, it presents in children aged 3–5 years and ...
Salt and pepper developmental regression syndrome, also known as Amish infantile epileptic syndrome[4] or GM3 deficiency syndrome, [5] is a rare autosomal recessive progressive neurological disorder characterized by developmental delay, severe intellectual disability, seizures, and skin pigmentation irregularities. [6][7][8][9] The clinical ...
Barakat-Perenthaler syndrome. Barakat-Perenthaler syndrome is a rare neurodevelopmental genetic disorder, presenting with a severe epileptic encephalopathy, developmental delay, Intellectual disability, progressive microcephaly and visual disturbance. It is listed by the standard reference, Online Mendelian Inheritance in Man (OMIM) as #618744.
Aicardi syndrome. Aicardi syndrome is a rare genetic malformation syndrome characterized by the partial or complete absence of a key structure in the brain called the corpus callosum, the presence of retinal lacunes, and epileptic seizures in the form of infantile spasms. [2] Other malformations of the brain and skeleton may also occur.
Cause. CDD is caused by pathogenic variants in the gene CDKL5. This gene provides instructions for making a protein (cyclin-dependent kinase -like 5) that is essential for normal brain development and function. [4] The CDKL5 protein is widely expressed in the brain, predominantly in nerve cells (neurons), with roles in cell proliferation ...
According to the Boston Children’s Hospital, approximately 14,000 children in the world have been diagnosed with the disease. Specifically in the U.S., it’s estimated that “2 to 4 out of ...
Lafora disease is a rare, adult-onset and autosomal recessive [4] genetic disorder which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of inclusion bodies, known as Lafora bodies, within the cytoplasm of the cells in the heart, liver, muscle ...
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