Generalized Epilepsy with Febrile Seizures Plus (GEFS+) panel




Tipo de test: 

Tiempo de espera: 

30 dias

Más información

Epilepsy generalized with febrile seizures plus (GEFS +) is a pathology of neurological, which appears in a small percentage of children who have febrile seizures that either extend beyond the age of 6 years, or they develop epilepsy with seizures afebrile.
The GEFS + has a highly variable phenotype combining febrile seizures, absence seizures, partial seizures, atonic seizures, or myoclonic seizures.
GEFS + is a genetically heterogeneous disease being linked to mutations in different genes. Our extensive panel includes sequencing of different genes that are associated with different types of GEFS +: GEFS + type I (gene sequencing SCN1B) GEFS + Type III (gene GABRG2) GEFS + Type IV (gene GABRD) GEFS + type VII (SCN9A gene).


Tomado de GeneReviews