Copy number variations and susceptibility to lateral temporal epilepsy: A study of 21 pedigrees

Autosomal dominant lateral temporal epilepsy (ADLTE) is a focal epileptic syndrome characterized by auditory or aphasic auras. Mutations in the LGI1 gene account for <50% of ADLTE families. To identify copy number variants (CNVs) related to ADLTE, we examined a collection of ADLTE families without LGI1 mutations.

[1]  Avi Ma'ayan,et al.  Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. , 2013, American journal of human genetics.

[2]  Holger Lerche,et al.  RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy , 2013, PloS one.

[3]  P. Striano,et al.  Low penetrance of autosomal dominant lateral temporal epilepsy in Italian families without LGI1 mutations , 2013, Epilepsia.

[4]  Holger Lerche,et al.  Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy , 2013, Epilepsia.

[5]  H. Mefford,et al.  Exon‐disrupting deletions of NRXN1 in idiopathic generalized epilepsy , 2013, Epilepsia.

[6]  L. Almasy,et al.  Utilizing extended pedigree information for discovery and confirmation of copy number variable regions among Mexican Americans , 2012, European Journal of Human Genetics.

[7]  P. Striano,et al.  LGI1 microdeletion in autosomal dominant lateral temporal epilepsy , 2012, Neurology.

[8]  M. Fichera,et al.  Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization. , 2012, Archives of neurology.

[9]  I. Ionita-Laza,et al.  Domain-dependent clustering and genotype-phenotype analysis of LGI1 mutations in ADPEAF , 2012, Neurology.

[10]  Matthew J. Thomas,et al.  Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes , 2012, European Journal of Human Genetics.

[11]  L. Faivre,et al.  Retracted: Exploring the potential role of disease‐causing mutation in a gene desert: Duplication of noncoding elements 5′ of GRIA3 is associated with GRIA3 silencing and X‐linked intellectual disability , 2012, Human mutation.

[12]  I. Scheffer,et al.  Rare copy number variants are an important cause of epileptic encephalopathies , 2011, Annals of neurology.

[13]  Istvan Mody,et al.  The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain , 2011, Nature Genetics.

[14]  Ulrich Stephani,et al.  Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies , 2010, PLoS genetics.

[15]  I. Scheffer,et al.  Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. , 2009, Human molecular genetics.

[16]  Carlo Nobile,et al.  Lateral temporal lobe epilepsies: Clinical and genetic features , 2009, Epilepsia.

[17]  Silvio C. E. Tosatto,et al.  LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy , 2009, Human mutation.

[18]  Elvira Bramon,et al.  Disruption of the neurexin 1 gene is associated with schizophrenia. , 2009, Human molecular genetics.

[19]  Richard M Myers,et al.  Population analysis of large copy number variants and hotspots of human genetic disease. , 2009, American journal of human genetics.

[20]  H. Hakonarson,et al.  Genomic Landscape of a Three-Generation Pedigree Segregating Affective Disorder , 2009, PloS one.

[21]  Christian E Elger,et al.  15q13.3 microdeletions increase risk of idiopathic generalized epilepsy , 2009, Nature Genetics.

[22]  Joshua M. Korn,et al.  Integrated detection and population-genetic analysis of SNPs and copy number variation , 2008, Nature Genetics.

[23]  M. Missler,et al.  Mutational analysis of the neurexin/neuroligin complex reveals essential and regulatory components , 2008, Proceedings of the National Academy of Sciences.

[24]  Thomas W. Mühleisen,et al.  Large recurrent microdeletions associated with schizophrenia , 2008, Nature.

[25]  Y. Lo,et al.  Analysis of protocadherin alpha gene enhancer polymorphism in bipolar disorder and schizophrenia , 2008, Schizophrenia Research.

[26]  Zachary A. Szpiech,et al.  Genotype, haplotype and copy-number variation in worldwide human populations , 2008, Nature.

[27]  Joseph T. Glessner,et al.  PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. , 2007, Genome research.

[28]  Fikret Erdogan,et al.  Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia. , 2007, Human molecular genetics.

[29]  T. Thornton,et al.  Case-control association testing with related individuals: a more powerful quasi-likelihood score test. , 2007, American journal of human genetics.

[30]  Kunio Inoue,et al.  Tissue-specific splicing regulator Fox-1 induces exon skipping by interfering E complex formation on the downstream intron of human F1γ gene , 2007, Nucleic acids research.

[31]  Kenny Q. Ye,et al.  Strong Association of De Novo Copy Number Mutations with Autism , 2007, Science.

[32]  Reinhard Ullmann,et al.  Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. , 2007, American journal of human genetics.

[33]  J. Mulley,et al.  The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene , 2004, Journal of Human Genetics.

[34]  M. Feldman,et al.  Extensive linkage disequilibrium, a common 16.7-kilobase deletion, and evidence of balancing selection in the human protocadherin alpha cluster. , 2003, American journal of human genetics.

[35]  T. Südhof,et al.  Neuroligin 1: A splice site-specific ligand for β-neurexins , 1995, Cell.

[36]  N. Risch,et al.  Localization of a gene for partial epilepsy to chromosome 10q , 1995, Nature Genetics.

[37]  G. Gould,et al.  The glucose transporter family: structure, function and tissue-specific expression. , 1993, The Biochemical journal.

[38]  J. Stockman.  Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes , 2010 .

[39]  T. Südhof,et al.  Neuroligin 1: a splice site-specific ligand for beta-neurexins. , 1995, Cell.