title: Familial temporal lobe epilepsy due to focal cortical dysplasia type IIIa.
abstract: OBJECTIVE
  Focal cortical dysplasia (FCD) represents a common cause of refractory epilepsy. It is considered a sporadic disorder, but its occasional familial occurrence suggests the involvement of genetic mechanisms.
  
  
  METHODS
  Siblings with intractable epilepsy were referred for epilepsy surgery evaluation. Both patients were examined using video-EEG monitoring, MRI examination and PET imaging. They underwent left anteromedial temporal lobe resection.
  
  
  RESULTS
  Electroclinical features pointed to left temporal lobe epilepsy and MRI examination revealed typical signs of left-sided hippocampal sclerosis and increased white matter signal intensity in the left temporal pole. PET examination confirmed interictal hypometabolism in the left temporal lobe. Histopathological examination of resected tissue demonstrated the presence FCD type IIIa, i.e. hippocampal sclerosis and focal cortical dysplasia in the left temporal pole.
  
  
  CONCLUSIONS
  We present a unique case of refractory mesial temporal lobe epilepsy in siblings, characterized by an identical clinical profile and histopathology of FCD type IIIa, who were successfully treated by epilepsy surgery. The presence of such a high concordance between the clinical and morphological data, together with the occurrence of epilepsy and febrile seizures in three generations of the family pedigree points towards a possible genetic nature of the observed FCD type IIIa.
authors.affiliation: Department of Neurology, 2nd Faculty of Medicine, Charles University in Prague, Motol University Hospital, Prague, 150 06, Czech Republic; Department of Developmental Epileptology, Institute of Physiology, The Czech Academy of Sciences, Prague 142 20, Czech Republic.
authors.forename: Petr
authors.initials: P
authors.lastname: Fabera
authors.affiliation: Department of Neurology, 2nd Faculty of Medicine, Charles University in Prague, Motol University Hospital, Prague, 150 06, Czech Republic.
authors.forename: Hana
authors.initials: H
authors.lastname: Krijtova
authors.affiliation: Department of Neurology, 2nd Faculty of Medicine, Charles University in Prague, Motol University Hospital, Prague, 150 06, Czech Republic.
authors.forename: Martin
authors.initials: M
authors.lastname: Tomasek
authors.affiliation: Department of Neurology, 2nd Faculty of Medicine, Charles University in Prague, Motol University Hospital, Prague, 150 06, Czech Republic.
authors.forename: David
authors.initials: D
authors.lastname: Krysl
authors.affiliation: Department of Pathology and Molecular Medicine, 2nd Faculty of Medicine, Charles University in Prague, Motol University Hospital, Prague 150 06, Czech Republic.
authors.forename: Josef
authors.initials: J
authors.lastname: Zamecnik
authors.affiliation: Department of Neurosurgery, 1st Faculty of Medicine, Charles University in Prague, Central Military Hospital, Prague, Czech Republic.
authors.forename: Milan
authors.initials: M
authors.lastname: Mohapl
authors.affiliation: Department of Developmental Epileptology, Institute of Physiology, The Czech Academy of Sciences, Prague 142 20, Czech Republic.
authors.forename: Premysl
authors.initials: P
authors.lastname: Jiruska
authors.affiliation: Department of Neurology, 2nd Faculty of Medicine, Charles University in Prague, Motol University Hospital, Prague, 150 06, Czech Republic. Electronic address: petr.marusic@fnmotol.cz.
authors.forename: Petr
authors.initials: P
authors.lastname: Marusic
mesh_terms: D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology / Q000601:surgery; D004833:Epilepsy, Temporal Lobe / Q000209:etiology* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D005260:Female; D006801:Humans; D008297:Male; D054220:Malformations of Cortical Development / Q000150:complications* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D062550:NAV1.1 Voltage-Gated Sodium Channel / Q000235:genetics; D011877:Radionuclide Imaging; D035781:Siblings
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; C568242:SCN1A protein, human
keywords: Epilepsy surgery; Familial temporal lobe epilepsy; Focal cortical dysplasia; Genetics of epilepsy