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Article

Contactin-associated protein-like (CNTNAP) 2 gene mutation in a patient with bilateral schizencephaly.

Acta neurologica Belgica - 1 Mar 2017

Samanta Debopam

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PMID: 27233939
DOI: 10.1007/s13760-016-0653-y

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Contactin-associated protein-like (CNTNAP) 2 gene mutation in a patient with bilateral schizencephaly.PMID 27233939Read ↗

Contact in the genetics of autism and schizophrenia.Semantic proximity Read ↗

CNOT2 haploinsufficiency in a 40-year-old man with intellectual disability, autism, and seizures.Semantic proximity Read ↗

Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorderSemantic proximity Read ↗

A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism.Semantic proximity Read ↗

Shining a light on CNTNAP2: complex functions to complex disorders.Semantic proximity Read ↗

Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum.Semantic proximity Read ↗

The Human Contactin-Associated Protein-like 2 Gene (CNTNAP2) Spans over 2 Mb of DNA at Chromosome 7q35Semantic proximity Read ↗

A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus.Semantic proximity Read ↗

Exploring the clinical spectrum of CNTNAP2-related neurodevelopmental disorders: A case series and a literature appraisal.Semantic proximity Read ↗

No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins.Semantic proximity Read ↗

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Novel mutation in SP2 in a Chinese pedigree with Neural tube defects.Semantic proximity Read ↗

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