Epilepsy & Seizures
Epilepsy with myoclonic absences
The first reports concerning absence seizures with severe clonic or myoclonic jerks appeared in 1966 (Gibberd 1966). Only
Feb. 13, 2014
FH gene variant type relative frequency
Small deletions include all except whole exon deletions. Large deletions include whole exon to whole gene deletions. (Source: Bayley JP, Launonen V, Tomlinson IP. The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency. BMC Med Genet 2008;9:20. Creative Commons Attribution License.)
Related
Media
Associated
Disorders
- Dystonia
- Infantile spasms