Northern epilepsy syndrome
Northern epilepsy syndrome (pronounced: nor-thurn ep-i-lep-see sin-drome) is a rare genetic disorder characterized by recurrent seizures and progressive neurological decline. The syndrome is also known as Progressive Epilepsy with Mental Retardation (PEMR) and EPMR.
Etymology
The term "Northern epilepsy syndrome" is derived from the fact that the syndrome was first identified in the Northern Ostrobothnia region of Finland. The term "epilepsy" comes from the Greek word "epilambanein", meaning "to seize, possess, or afflict".
Symptoms
The primary symptom of Northern epilepsy syndrome is seizures, which typically begin in childhood. Other symptoms may include intellectual disabilities, motor skill difficulties, and dementia in later stages.
Causes
Northern epilepsy syndrome is caused by mutations in the CLN8 gene, which is involved in the regulation of endosomal trafficking. This mutation is inherited in an autosomal recessive manner.
Diagnosis
Diagnosis of Northern epilepsy syndrome is based on clinical symptoms, family history, and genetic testing to identify mutations in the CLN8 gene.
Treatment
There is currently no cure for Northern epilepsy syndrome. Treatment is symptomatic and supportive, focusing on managing seizures and other neurological symptoms.
Prognosis
The prognosis for individuals with Northern epilepsy syndrome varies. Some individuals may have a normal lifespan with mild neurological symptoms, while others may experience a progressive decline in neurological function.
See also
External links
- Medical encyclopedia article on Northern epilepsy syndrome
- Wikipedia's article - Northern epilepsy syndrome
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