title: Familial mesial temporal lobe epilepsy (FMTLE) : a clinical and genetic study of 15 Italian families.
abstract: BACKGROUND
  Familial mesial temporal lobe epilepsy (FMTLE) is characterized by prominent psychic and autonomic seizures, often without hippocampal sclerosis (HS) or a previous history of febrile seizures (FS), and good prognosis. The genetics of this condition is largely unknown.We present the electroclinical and genetic findings of 15 MTLE Italian families.
  
  
  METHODS
  FMTLE was defined when two or more first-degree relatives had epilepsy suggesting a mesial temporal lobe origin. The occurrence of seizures with auditory auras was considered an exclusion criterion. Patients underwent video-EEG recordings, 1.5-Tesla MRI particularly focused on hippocampal analysis, and neuropsychological evaluation. Genetic study included genotyping and linkage analysis of candidate loci at 4q, 18q, 1q, and 12q as well as screening for LGI1/Epitempin mutations.
  
  
  RESULTS
  Most of the families showed an autosomal dominant inheritance pattern with incomplete penetrance. Fifty-four (32 F) affected individuals were investigated. Twenty-one (38.8 %) individuals experienced early FS. Forty-eight individuals fulfilled the criteria for MTLE. Epigastric/visceral sensation (72.9 %) was the most common type of aura, followed by psychic symptoms (35.4 %), and déjà vu (31.2 %). HS occurred in 13.8% of individuals, three of whom belonged to the same family. Prognosis of epilepsy was generally good. Genetic study failed to show LGI1/Epitempin mutations or significative linkage to the investigated loci.
  
  
  CONCLUSIONS
  FMTLE may be a more common than expected condition, clinically and genetically heterogeneous. Some of the reported families, grouped on the basis of a specific aura, may represent an interesting subgroup on whom to focus future linkage studies.
authors.affiliation: Epilepsy Center, Department of Neurological Sciences Federico II University, Via Pansini 5, 80131, Napoli, Italy.
authors.forename: Pasquale
authors.initials: P
authors.lastname: Striano
authors.forename: Antonio
authors.initials: A
authors.lastname: Gambardella
authors.forename: Antonietta
authors.initials: A
authors.lastname: Coppola
authors.forename: Carlo
authors.initials: C
authors.lastname: Di Bonaventura
authors.forename: Giorgia
authors.initials: G
authors.lastname: Bovo
authors.forename: Erica
authors.initials: E
authors.lastname: Diani
authors.forename: Francesca
authors.initials: F
authors.lastname: Boaretto
authors.forename: Gabriella
authors.initials: G
authors.lastname: Egeo
authors.forename: Clotilde
authors.initials: C
authors.lastname: Ciampa
authors.forename: Angelo
authors.initials: A
authors.lastname: Labate
authors.forename: Stefania
authors.initials: S
authors.lastname: Testoni
authors.forename: Daniela
authors.initials: D
authors.lastname: Passarelli
authors.forename: Ida
authors.initials: I
authors.lastname: Manna
authors.forename: Caterina
authors.initials: C
authors.lastname: Sferro
authors.forename: Umberto
authors.initials: U
authors.lastname: Aguglia
authors.forename: Ferdinando
authors.initials: F
authors.lastname: Caranci
authors.forename: Anna Teresa
authors.initials: AT
authors.lastname: Giallonardo
authors.forename: Salvatore
authors.initials: S
authors.lastname: Striano
authors.forename: Carlo
authors.initials: C
authors.lastname: Nobile
authors.forename: Roberto
authors.initials: R
authors.lastname: Michelucci
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D025063:Chromosome Disorders / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D002874:Chromosome Mapping; D004252:DNA Mutational Analysis; D004569:Electroencephalography; D004833:Epilepsy, Temporal Lobe / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics; D007558:Italy; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D019965:Neurocognitive Disorders / Q000235:genetics / Q000503:physiopathology; D010375:Pedigree; D012678:Sensation Disorders / Q000235:genetics / Q000503:physiopathology; D013702:Temporal Lobe / Q000473:pathology / Q000503:physiopathology*