Thelansis

 Dravet syndrome, also known as Severe Myoclonic Epilepsy of Infancy (SMEI), is a rare and fatal form of epilepsy that typically starts during childhood. Initial seizures are often prolonged, and other types develop in the second year of life. It is characterized by frequent, prolonged seizures that are often triggered by high body temperature (hyperthermia). Additionally, it presents with developmental delay, sleep disturbances, ataxia, hypotonia, speech problems, and other health issues. Approximately 85% of cases result from a mutation or deletion in the SCN1A gene (located at 2q24.3), which encodes a voltage-gated sodium channel. Most of these mutations are not inherited but may be part of a familial spectrum of genetic epilepsy known as febrile seizures-plus (GEFS+) in 5-10% of cases. About 5% of female cases might be attributed to mutations in the PCDH19 gene (located at Xq22.1). The cause is unknown in around 10% of cases. In about 3% of initially negative cases, somatic mos...