Definition
A severe form of epilepsy that generally appears in the first year of life, is caused, in most cases, by a mutation of the SCN1A gene and is characterized by prolonged seizures that may be triggered by fever, illness, a warm bath or warm weather, particularly in the early phases of the disease. Other symptoms that develop over time may include behavioral and developmental delays, movement and balance issues, orthopedic conditions, delayed language and speech, growth and nutrition issues, sleeping difficulties, chronic infections, sensory integration disorders and problems with the autonomic nervous system which can lead to difficulty regulating body temperature, heart rate and blood pressure.
URL Name
YF-3000-2575
Third Level Code
YF-3000
Taxonomy Code
YF-3000.2575
Parent Code
YF-3000
Family Code
Y
Second Level Code
YF
Fourth Level Code
YF-3000-2575
Use References
Severe Myoclonic Epilepsy of Infancy, SMEI
Publication Status
Online