Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2.
By K. Strauss, E. Puffenberger, M. Huentelman, Steven M. Gottlieb, S. Dobrin, J. Parod, D. Stephan, D. Morton. New England Journal of Medicine, 2006
637 citations recorded by the source corpus.
Subfields: Cellular and Molecular Neuroscience, Molecular Biology
View Paper: https://www.semanticscholar.org/paper/5c7e71574385b9a1f6e8308db3892d0b755bcedf
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In Cellular and Molecular Neuroscience
- O. Marín
- Pat Levitt
- Susan Y. Bookheimer
- Jesse A. Brown
- Maarten H. P. Kole
- G. Stuart
- Daniel H. Geschwind
- E. Peles
In Molecular Biology
- Daniel H. Geschwind
- O. Marín
- Catherine Lord
- Paul M. Thompson
- Brian J. O'Roak
- Pat Levitt
- Arthur W. Toga
- Maarten H. P. Kole
Citations in the corpus
- A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. (2008, neutral): “children with CDFE are also diagnosed with autism.(15) CNTNAP2 is a very large gene spanning more than 2.”
- Autism spectrum disorders: developmental disconnection syndromes (2007, background): “Similarly, in the Amish population, mutations in the gene encoding contactin-associated protein-like 2 (CNTNAP2), which has high homology to the neurexin genes, can cause a rare neuronal migration disorder that results in seizures, language delay, intellectual disability and, in nearly two-thirds of”
- Signal processing in the axon initial segment. (2012, positive): “…in the AIS alone are sufficient to cause disease, a genetic variation in the gene coding for contactin-associated protein 2 (Caspr-2), which is exclusively expressed in AIS and nodes of Ranvier, is associated with abnormalities in brain development and focal epilepsies (Strauss et al., 2006).”
- Interneuron dysfunction in psychiatric disorders (2012, background): “The gene encoding contactin-associated protein-like 2 (CNTNAP2) has also attracted a lot of interest in the field of autism since it was originally linked to a relatively rare syndrome that is characterized by cortical dysplasia, focal epilepsy and a high frequency of autis”
- Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. (2008, methodology): “Third and most recently, mutations in CNTNAP2 itself segregate with a recessive seizure disorder associated with ASD and language delay.(22) Of the variants characterized in Stage 2, only that within”
- Altered Structural Brain Connectivity in Healthy Carriers of the Autism Risk Gene, CNTNAP2 (2011, positive): “These are the areas where CNTNAP2 expression is especially enriched (Abrahams et al., 2007; Arking et al., 2008; Strauss et al., 2006; Vernes et al., 2008) and where Scott-Van Zeeland found differences in functional connectivity.”
- Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. (2011, background): “…disorders (Klauck et al., 1997; Smalley et al., 1992), gene discovery in families with Mendelian forms of the syndrome (Morrow et al., 2008; Strauss et al., 2006), and long-standing evidence for an increased burden of gross chromosomal abnormalities (Bugge et al., 2000;…”
- Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities and core autism-related deficits (2011, positive): “Cntnap2 / Mice Exhibit Epileptic Seizures and Abnormal Electroencephalogram Pattern One of the major phenotypes of CDFE syndrome is the presence of epileptic seizures, which is associated with dense hippocampal astroglyosis (Strauss et al., 2006).”