TY - JOUR
T1 - Juvenile myoclonic epilepsy with generalised and focal electroencephalographic abnormalities
T2 - A case report with a molecular genetic study
AU - Bartocci, A.
AU - Elia, M.
AU - Calì, F.
AU - Tiacci, C.
AU - Cantisani, A. T.
AU - Perticoni, G.
PY - 2007/10
Y1 - 2007/10
N2 - 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.
AB - 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.
KW - Focal EEG
KW - JME
KW - Molecular genetic study
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U2 - 10.1007/s10072-007-0835-8
DO - 10.1007/s10072-007-0835-8
M3 - Article
C2 - 17972043
AN - SCOPUS:35848962266
VL - 28
SP - 276
EP - 278
JO - Neurological Sciences
JF - Neurological Sciences
SN - 1590-1874
IS - 5
ER -