Characterisation of CASPR2 deficiency disorder - a syndrome involving autism, epilepsy and language impairment

BACKGROUND: Heterozygous mutations in CNTNAP2 have been identified in patients with a range of complex phenotypes including intellectual disability, autism and schizophrenia. However heterozygous CNTNAP2 mutations are also found in the normal population. Conversely, homozygous mutations are rare in...

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Detalles Bibliográficos
Autores principales: Rodenas-Cuadrado, Pedro, Pietrafusa, Nicola, Francavilla, Teresa, La Neve, Angela, Striano, Pasquale, Vernes, Sonja C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4739328/
https://www.ncbi.nlm.nih.gov/pubmed/26843181
http://dx.doi.org/10.1186/s12881-016-0272-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4739328/
https://www.ncbi.nlm.nih.gov/pubmed/26843181
http://dx.doi.org/10.1186/s12881-016-0272-8

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