All Outputs (3)

Heterozygous deletion of α-neurexin I or α-neurexin II results in behaviors relevant to autism and schizophrenia (2015)
Journal Article
Dachtler, J., Ivorra, J., Rowland, T., Lever, C., Rodgers, R., & Clapcote, S. (2015). Heterozygous deletion of α-neurexin I or α-neurexin II results in behaviors relevant to autism and schizophrenia. Behavioral Neuroscience, 129(6), 765-776. https://doi.org/10.1037/bne0000108

The neurexins are a family of presynaptic cell adhesion molecules. Human genetic studies have found heterozygous deletions affecting NRXN1 and NRXN2, encoding α-neurexin I (Nrxn1α) and α-neurexin II (Nrxn2α), in individuals with autism spectrum disor... Read More about Heterozygous deletion of α-neurexin I or α-neurexin II results in behaviors relevant to autism and schizophrenia.

Characterization of cognitive deficits in mice with an alternating hemiplegia-linked mutation (2015)
Journal Article
Kirshenbaum, G., Dachtler, J., Roder, J., & Clapcote, S. (2015). Characterization of cognitive deficits in mice with an alternating hemiplegia-linked mutation. Behavioral Neuroscience, 129(6), 822-831. https://doi.org/10.1037/bne0000097

Cognitive impairment is a prominent feature in a range of different movement disorders. Children with Alternating Hemiplegia of Childhood are prone to developmental delay, with deficits in cognitive functioning becoming progressively more evident as... Read More about Characterization of cognitive deficits in mice with an alternating hemiplegia-linked mutation.

Transgenic rescue of phenotypic deficits in a mouse model of alternating hemiplegia of childhood (2015)
Journal Article
Kirshenbaum, G., Dachtler, J., Roder, J., & Clapcote, S. (2016). Transgenic rescue of phenotypic deficits in a mouse model of alternating hemiplegia of childhood. neurogenetics, 17(1), 57-63. https://doi.org/10.1007/s10048-015-0461-1

Missense mutations in ATP1A3 encoding Na+,K+-ATPase α3 are the primary cause of alternating hemiplegia of childhood (AHC). Most ATP1A3 mutations in AHC lie within a cluster in or near transmembrane α-helix TM6, including I810N that is also found in t... Read More about Transgenic rescue of phenotypic deficits in a mouse model of alternating hemiplegia of childhood.