Author

Sonja Vernes

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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Genetics· 1

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Approach:experimental assay· 1 Organism:human· 1

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Angela La Neve· 1 shared Nicola Pietrafusa· 1 shared Pasquale Striano· 1 shared Pedro Rodenas-Cuadrado· 1 shared Teresa Francavilla· 1 shared

Activity by Year

2015-2015 · peak 1/yr

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5 top collaborators · 10 mutual co-author links

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1 shared paperGenetics

Angela La Neve

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1 paper

Recent·Most cited

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

Pedro Rodenas-Cuadrado, Nicola Pietrafusa, Teresa Francavilla, Angela La Neve, Pasquale Striano, Sonja Vernes

This paper describes a family with homozygous CNTNAP2 mutations causing CASPR2 deficiency, leading to epilepsy, intellectual disability, language impairment, and autism-like features.

bioRxiv · Dec 20, 2015Genetics