Article
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1.
BMC medical genetics - 9 Aug 2011
Gregor Anne, Albrecht Beate, Bader Ingrid, Bijlsma Emilia K, Ekici Arif B, Engels Hartmut, Hackmann Karl, Horn Denise, Hoyer Juliane, Klapecki Jakub, Kohlhase Jürgen, Maystadt Isabelle, Nagl Sandra, Prott Eva, Tinschert Sigrid, Ullmann Reinhard, Wohlleber Eva, Woods Geoffrey, Reis André, Rauch Anita, Zweier Christiane
Abstract excerpt
BACKGROUND: Heterozygous copy-number and missense variants in CNTNAP2 and NRXN1 have repeatedly been associated with a wide spectrum of neuropsychiatric disorders such as developmental language and autism spectrum disorders, epilepsy and schizophrenia. Recently, homozygous or compound heterozygous defects in either gene were reported as causative for severe intellectual disability. METHODS: 99 patients with...
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