This is the case of a 16-year-old girl with juvenile myoclonic epilepsy (JME) and maternal family history positive for epilepsy and febrile seizures, presenting ictal and interictal generalised, as well as focal paroxysmal abnormalities over the right central-temporal regions activated during sleep. The brain magnetic resonance image was normal and the seizures responded to therapy with valproate and lamotrigine. A molecular genetic analysis led to the identification of a polymorphism (A -> G) in position 10 in the intron 3 (rs949626) of the EFHC 1 gene; and a polymorphism (T -> C) of the exon of the GAB RA1 gene, without aminoacidic exchange. In the literature this is the first case of JME with electroencephalograph focal epileptiform abnormalities, but without EFHC1 and GABRA1 gene mutations.
Juvenile myoclonic epilepsy with generallsed and focal electroencephalographic abnormalities: a case report with a molecular genetic study
Elia M;
2007-01-01
Abstract
This is the case of a 16-year-old girl with juvenile myoclonic epilepsy (JME) and maternal family history positive for epilepsy and febrile seizures, presenting ictal and interictal generalised, as well as focal paroxysmal abnormalities over the right central-temporal regions activated during sleep. The brain magnetic resonance image was normal and the seizures responded to therapy with valproate and lamotrigine. A molecular genetic analysis led to the identification of a polymorphism (A -> G) in position 10 in the intron 3 (rs949626) of the EFHC 1 gene; and a polymorphism (T -> C) of the exon of the GAB RA1 gene, without aminoacidic exchange. In the literature this is the first case of JME with electroencephalograph focal epileptiform abnormalities, but without EFHC1 and GABRA1 gene mutations.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
