Familial mesial temporal lobe epilepsy (FMTLE): A clinical and genetic study of 15 Italian families

P. Striano, A. Gambardella, A. Coppola, C. Di Bonaventura, G. Bovo, E. Diani, F. Boaretto, G. Egeo, C. Ciampa, A. Labate, S. Testoni, D. Passarelli, I. Manna, C. Sferro, U. Aguglia, F. Caranci, A. T. Giallonardo, S. Striano, C. Nobile, R. Michelucci

Research output: Contribution to journalArticle

42 Citations (Scopus)

Abstract

Introduction: 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. Patients and 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. Discussion: 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.

Original languageEnglish
Pages (from-to)16-23
Number of pages8
JournalJournal of Neurology
Volume255
Issue number1
DOIs
Publication statusPublished - Jan 2008

Fingerprint

Epilepsy
Febrile Seizures
Sclerosis
Seizures
Inheritance Patterns
Video Recording
Mutation
Penetrance
Temporal Lobe
Electroencephalography
Clinical Studies
Familial Mesial Temporal Lobe Epilepsy

Keywords

  • Epilepsy
  • FMTLE
  • Genetics
  • Hippocampal sclerosis
  • Linkage
  • Temporal lobe epilepsy

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Familial mesial temporal lobe epilepsy (FMTLE) : A clinical and genetic study of 15 Italian families. / Striano, P.; Gambardella, A.; Coppola, A.; Di Bonaventura, C.; Bovo, G.; Diani, E.; Boaretto, F.; Egeo, G.; Ciampa, C.; Labate, A.; Testoni, S.; Passarelli, D.; Manna, I.; Sferro, C.; Aguglia, U.; Caranci, F.; Giallonardo, A. T.; Striano, S.; Nobile, C.; Michelucci, R.

In: Journal of Neurology, Vol. 255, No. 1, 01.2008, p. 16-23.

Research output: Contribution to journalArticle

Striano, P, Gambardella, A, Coppola, A, Di Bonaventura, C, Bovo, G, Diani, E, Boaretto, F, Egeo, G, Ciampa, C, Labate, A, Testoni, S, Passarelli, D, Manna, I, Sferro, C, Aguglia, U, Caranci, F, Giallonardo, AT, Striano, S, Nobile, C & Michelucci, R 2008, 'Familial mesial temporal lobe epilepsy (FMTLE): A clinical and genetic study of 15 Italian families', Journal of Neurology, vol. 255, no. 1, pp. 16-23. https://doi.org/10.1007/s00415-007-0653-1
Striano, P. ; Gambardella, A. ; Coppola, A. ; Di Bonaventura, C. ; Bovo, G. ; Diani, E. ; Boaretto, F. ; Egeo, G. ; Ciampa, C. ; Labate, A. ; Testoni, S. ; Passarelli, D. ; Manna, I. ; Sferro, C. ; Aguglia, U. ; Caranci, F. ; Giallonardo, A. T. ; Striano, S. ; Nobile, C. ; Michelucci, R. / Familial mesial temporal lobe epilepsy (FMTLE) : A clinical and genetic study of 15 Italian families. In: Journal of Neurology. 2008 ; Vol. 255, No. 1. pp. 16-23.
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AU - Gambardella, A.

AU - Coppola, A.

AU - Di Bonaventura, C.

AU - Bovo, G.

AU - Diani, E.

AU - Boaretto, F.

AU - Egeo, G.

AU - Ciampa, C.

AU - Labate, A.

AU - Testoni, S.

AU - Passarelli, D.

AU - Manna, I.

AU - Sferro, C.

AU - Aguglia, U.

AU - Caranci, F.

AU - Giallonardo, A. T.

AU - Striano, S.

AU - Nobile, C.

AU - Michelucci, R.

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N2 - Introduction: 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. Patients and 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. Discussion: 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.

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KW - Linkage

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