LGI1 microdeletions are not a frequent cause of partial epilepsy with auditory features (PEAF).
Heterozygous mutations of the leucine-rich, glioma-inactivated 1 gene (LGI1) are the major known cause of partial epilepsy with auditory features (PEAF), accounting for roughly 50% of families. Recently, a partial gene microdeletion has been reported in a single family. To assess the contribution of LGI1 microrearrangements to the pathogenesis of PEAF, we screened 50 patients negative for point mutations through multiplex ligation-dependent probe amplification (MLPA) analysis. No cryptic imbalances were found in LGI1, suggesting that LGI1 microdeletions are not a frequent cause of PEAF. Despite the small number of examined patients and the need for replication studies, these findings support the hypothesis that diagnostic screening for LGI1 microrearrangements lacks clinical utility, especially for sporadic cases, and further highlight genetic heterogeneity of familial and sporadic PEAF.
U.O. Medical Genetics, Polyclinic Sant'Orsola-Malpighi, University of Bologna, Bologna, Italy. Electronic address: pamela.magini@unibo.it.
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Magini
IRCCS Istituto delle Scienze Neurologiche and Department of Neurological, Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
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Bisulli
U.O. Medical Genetics, Polyclinic Sant'Orsola-Malpighi, University of Bologna, Bologna, Italy.
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Baldassari
IRCCS Istituto delle Scienze Neurologiche and Department of Neurological, Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
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Stipa
IRCCS Istituto delle Scienze Neurologiche and Department of Neurological, Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
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Naldi
IRCCS Istituto delle Scienze Neurologiche and Department of Neurological, Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
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Licchetta
IRCCS Istituto delle Scienze Neurologiche and Department of Neurological, Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
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Menghi
IRCCS Istituto delle Scienze Neurologiche and Department of Neurological, Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
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Tinuper
U.O. Medical Genetics, Polyclinic Sant'Orsola-Malpighi, University of Bologna, Bologna, Italy.
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Seri
U.O. Medical Genetics, Polyclinic Sant'Orsola-Malpighi, University of Bologna, Bologna, Italy.
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Pippucci
D000293:Adolescent; D000328:Adult; D000368:Aged; D004252:DNA Mutational Analysis; D020937:Epilepsy, Partial, Sensory / Q000235:genetics*; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008875:Middle Aged; D060885:Multiplex Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics*; D017384:Sequence Deletion; D055815:Young Adult
D047908:Intracellular Signaling Peptides and Proteins; C116499:LGI1 protein, human; D011506:Proteins
Genetic heterogeneity; LGI1; LTE; MLPA; Microdeletions; PEAF