Recessive Symptomatic Focal Epilepsy and Mutant Contactin-Associated Protein-like 2
Copyright policy )Recessive Symptomatic Focal Epilepsy and Mutant Contactin-Associated Protein-like 2
Contactin-associated protein-like 2 (CASPR2) is encoded by CNTNAP2 and clusters voltage-gated potassium channels (K(v)1.1) at the nodes of Ranvier. We report a homozygous mutation of CNTNAP2 in Old Order Amish children with cortical dysplasia, focal epilepsy, relative macrocephaly, and diminished deep-tendon reflexes. Intractable focal seizures began in early childhood, after which language regression, hyperactivity, impulsive and aggressive behavior, and mental retardation developed in all children. Resective surgery did not prevent the recurrence of seizures. Temporal-lobe specimens showed evidence of abnormalities of neuronal migration and structure, widespread astrogliosis, and reduced expression of CASPR2.
- Translational Genomics Research Institute United States
- Clinic for Special Children United States
Reflex, Stretch, Homozygote, Gene Expression, Membrane Proteins, Electroencephalography, Nerve Tissue Proteins, Temporal Lobe, Phenotype, Seizures, Child, Preschool, Mutation, Secondary Prevention, Humans, Epilepsies, Partial, Child, Magnetic Resonance Angiography
Reflex, Stretch, Homozygote, Gene Expression, Membrane Proteins, Electroencephalography, Nerve Tissue Proteins, Temporal Lobe, Phenotype, Seizures, Child, Preschool, Mutation, Secondary Prevention, Humans, Epilepsies, Partial, Child, Magnetic Resonance Angiography
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