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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment
ERC1 GRIN2A SRPX2
2017/8/25
A significant proportion of children have unexplained problems acquiring proficient linguistic skills despite adequate intelligence and opportunity. Developmental language disorders are highly heritab...
Characterisation of CASPR2 deficiency disorder-a syndrome involving autism,epilepsy and language impairment
CNTNAP2 Epilepsy Intellectual disability Language regression Autism
2016/5/3
Background: Heterozygous mutations in CNTNAP2 have been identified in patients with a range of complex phenotypes including intellectual disability, autism and schizophrenia. However heterozygous CNTN...
A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment
autism intellectual disability
2015/12/18
FOXP1 (forkhead box protein P1; OMIM 605515) belongs to the FOX
gene family of transcription factor proteins, defined by the presence of
a characteristic DNA-binding domain known as the forkhe...
Exome Sequencing in an Admixed Isolated Population Indicates NFXL1 Variants Confer a Risk for Specific Language Impairment
Exome Sequencing Admixed Isolated Population NFXL1 Variants Specific Language Impairment
2015/5/13
Children affected by Specific Language Impairment (SLI) fail to acquire age appropriate language skills despite adequate intelligence and opportunity. SLI is highly heritable, but the understanding of...
Genome-wide analysis identifies a role for common copy number variants in specific language impairment
Genome-wide analysis copy number variants specific language impairment
2015/5/13
An exploratory genome-wide copy number variant (CNV) study was performed in 127 independent cases with specific language impairment (SLI), their first-degree relatives (385 individuals) and 269 popula...
A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment
FOXP1 variant autism intellectual disability severe speech language impairment
2015/5/13
FOXP1 (forkhead box protein P1) is a transcription factor involved in the development of several tissues, including the brain. An emerging phenotype of patients with protein-disrupting FOXP1 variants ...
Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment
ALSPAC GWAS imprinting neurodevelopmental disorder specific language impairment
2015/5/5
Specific language impairment (SLI) is a neurodevelopmental disorder that affects linguistic abilities when development is otherwise normal. We report the results of a genome-wide association study of ...
Associations of HLA alleles with specific language impairment
Specific language impairment (SLI) HLA Neurodevelopmental disorders Genetic association
2015/5/5
Human leukocyte antigen (HLA) loci have been implicated in several neurodevelopmental disorders in which language is affected. However, to date, no studies have investigated the possible involvement o...
Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment
ZNF277 SLI language
2015/5/5
Specific language impairment (SLI), an unexpected failure to develop appropriate language skills despite adequate non-verbal intelligence, is a heterogeneous multifactorial disorder with a complex gen...
Specific language impairment (SLI) is defined as an unexpected and persistent impairment in language ability despite adequate opportunity and intelligence and in the absence of any explanatory medical...
Anticipatory sentence processing in children with specific language impairment: Evidence from eye movements during listening
eye movements language impairment
2014/5/7
Twenty-five children with specific language impairment (SLI; age 5 years, 3 months [5;3]–8;2),
50 typically developing children (3;3–8;2), and 31 normal adults participated in three eye-tracking
exp...