title: Juvenile myoclonic epilepsy with generalised and focal electroencephalographic abnormalities: a case report with a molecular genetic study.
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 EFHC1 gene; and a polymorphism (T-->C) of the exon of the GABRA1 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.
authors.affiliation: S.C. di Neurofisiopatologia-Azienda Ospedaliera R. Silvestrini, S. Andrea della Fratte, I-06156, Perugia, Italy. arnybart@infinito.it
authors.forename: A
authors.initials: A
authors.lastname: Bartocci
authors.forename: M
authors.initials: M
authors.lastname: Elia
authors.forename: F
authors.initials: F
authors.lastname: Calì
authors.forename: C
authors.initials: C
authors.lastname: Tiacci
authors.forename: A T
authors.initials: AT
authors.lastname: Cantisani
authors.forename: G
authors.initials: G
authors.lastname: Perticoni
mesh_terms: D000293:Adolescent; D002135:Calcium-Binding Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D004569:Electroencephalography; D005260:Female; D006801:Humans; D020190:Myoclonic Epilepsy, Juvenile / Q000235:genetics* / Q000503:physiopathology; D020447:Parasomnias / Q000503:physiopathology; D011110:Polymorphism, Genetic; D011963:Receptors, GABA-A / Q000235:genetics*; D013702:Temporal Lobe / Q000002:abnormalities*
chemical_list: D002135:Calcium-Binding Proteins; C489648:EFHC1 protein, human; C546240:GABRA1 protein, human; D011963:Receptors, GABA-A