TY - JOUR
T1 - Autosomal dominant lateral temporal lobe epilepsy associated with a novel reelin mutation
AU - Michelucci, Roberto
AU - Dazzo, Emanuela
AU - Volpi, Lilia
AU - Pasini, Elena
AU - Riguzzi, Patrizia
AU - Minardi, Raffaella
AU - Marliani, Anna Federica
AU - Tappatà, Maria
AU - Bisulli, Francesca
AU - Tassinari, Carlo Alberto
AU - Nobile, Carlo
N1 - Ricercatore distaccato presso IRCCS a seguito Convenzione esclusiva con Università di Bologna (Bisulli Francesca)
PY - 2020/8/1
Y1 - 2020/8/1
N2 - Aims. Reelin mutations are responsible for a minority of families with autosomal dominant lateral temporal lobe epilepsy. Here, we report a novel nuclear family with distinct clinical and neuroradiological findings. Methods. We studied the proband and her mother by means of EEG, video-EEG, 3T MRI, FDG-PET and genetic testing. Results. Both patients had a focal drug-resistant epilepsy with onset at the age of 16 and focal seizures with typical auditory features combined with fear, followed by loss of contact or evolving to bilateral tonic-clonic seizures. The proband's ictal EEG showed clear left temporal seizure onset, and cerebral MRI revealed subtle left temporal changes (mild hypotrophy, slight blurring of the white and grey matter and hyperintensity) with corresponding left temporal mesial focal hypometabolism on FDG-PET. Genetic testing identified a missense variant, c.6631C>T (p.Arg2211Cys), in reelin repeat #5 in both patients, which markedly affected the secretion of the protein. Conclusion. The data from this family support previous findings indicating that reelin mutations are a cause of autosomal dominant lateral temporal lobe epilepsy which has a clinical spectrum that may also encompass drug-resistant epilepsy associated with mild MRI temporal changes.
AB - Aims. Reelin mutations are responsible for a minority of families with autosomal dominant lateral temporal lobe epilepsy. Here, we report a novel nuclear family with distinct clinical and neuroradiological findings. Methods. We studied the proband and her mother by means of EEG, video-EEG, 3T MRI, FDG-PET and genetic testing. Results. Both patients had a focal drug-resistant epilepsy with onset at the age of 16 and focal seizures with typical auditory features combined with fear, followed by loss of contact or evolving to bilateral tonic-clonic seizures. The proband's ictal EEG showed clear left temporal seizure onset, and cerebral MRI revealed subtle left temporal changes (mild hypotrophy, slight blurring of the white and grey matter and hyperintensity) with corresponding left temporal mesial focal hypometabolism on FDG-PET. Genetic testing identified a missense variant, c.6631C>T (p.Arg2211Cys), in reelin repeat #5 in both patients, which markedly affected the secretion of the protein. Conclusion. The data from this family support previous findings indicating that reelin mutations are a cause of autosomal dominant lateral temporal lobe epilepsy which has a clinical spectrum that may also encompass drug-resistant epilepsy associated with mild MRI temporal changes.
KW - autosomal dominant epilepsy with auditory features
KW - autosomal dominant lateral temporal lobe epilepsy
KW - lateral temporal lobe seizures
KW - reelin
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U2 - 10.1684/epd.2020.1176
DO - 10.1684/epd.2020.1176
M3 - Article
C2 - 32723706
AN - SCOPUS:85090274177
VL - 22
SP - 443
EP - 448
JO - Epileptic Disorders
JF - Epileptic Disorders
SN - 1294-9361
IS - 4
ER -