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.
Similar content being viewed by others
References
Janz D (1985) Epilepsy with impulsive petit mal (Juvenile Myoclonic Epilepsy). Acta Neurol Scand 72:339–359
Aliberti V, Grünewald RA, Panayiotopoulos CP, Chroni E (1994) Focal electroencephalographic abnormalities in Juvenile Myoclonic Epilepsy. Epilepsia 35:297–301
Lancman ME, Asconapé JJ, Penry JK (1994) Clinical and EEG asymmetries in Juvenile Myoclonic Epilepsy. Epilepsia 35:302–306
Usui N, Kotagal P, Matsumoto R et al (2005) Focal semiologic and electroencephalographic features in patients with Juvenile Myoclonic Epilepsy. Epilepsia 46:1668–1676
Suzuki T, Delgado-Escueta AV, Aguan K et al (2004) Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat Genet 36:842–849
Cossette P, Liu L, Brisebois K et al (2002) Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat Genet 31:184–189
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Bartocci, A., Elia, M., Calì, F. et al. Juvenile myoclonic epilepsy with generalised and focal electroencephalographic abnormalities: a case report with a molecular genetic study. Neurol Sci 28, 276–278 (2007). https://doi.org/10.1007/s10072-007-0835-8
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10072-007-0835-8