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Epilepsy with auditory features: A LGI1 gene mutation suggests a loss‐of‐function mechanism
Author(s) -
Pizzuti Antonio,
Flex Elisabetta,
Di Bonaventura Carlo,
Dottorini Tania,
Egeo Gabriella,
Manfredi Mario,
Dallapiccola Bruno,
Giallonardo Anna Teresa
Publication year - 2003
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.10492
Subject(s) - mutation , mechanism (biology) , loss function , gene , genetics , function (biology) , epilepsy , biology , neuroscience , phenotype , philosophy , epistemology
Autosomal dominant partial epilepsy with auditory features (ADPEAF) is a genetically heterogeneous disorder. Some patients exhibit mutations in the leucine‐rich glioma inactivated ( LGI1 ) gene. In an ADPEAF family, a novel mutation in the Lgi1 signal peptide is predicted to interfere with the protein cell sorting, resulting in altered processing. This finding suggests a loss‐of‐function mechanism for LGI1 gene mutations causing ADPEAF even if other mechanisms cannot be ruled out. Ann Neurol 2003;53:396–399