非表示:
キーワード:
Adaptor Proteins, Signal Transducing/genetics/*metabolism
Adolescent
Adult
Age of Onset
Attention Deficit Disorder with Hyperactivity/genetics/*metabolism/psychology
Child
Electroencephalography
Female
Heterozygote
Humans
Intellectual Disability/genetics/*metabolism/psychology
Language Disorders/genetics/*metabolism/psychology
Male
Middle Aged
Neuropsychological Tests
Pedigree
Seizures/genetics/*metabolism
要旨:
Synaptic function is central to brain function. Understanding the synapse is aided by studies of patients lacking individual synaptic proteins. Common neurological diseases are genetically complex. Their understanding is likewise simplified by studies of less common monogenic forms. We detail the disease caused by absence of the synaptic protein CNKSR2 in 8 patients ranging from 6 to 62 years old. The disease is characterized by intellectual disability, attention problems, and abrupt lifelong language loss following a brief early childhood epilepsy with continuous spike-waves in sleep. This study describes the phenotype of CNKSR2 deficiency and its involvement in systems underlying common neurological disorders.
