Temporal lobe epilepsy and focal cortical dysplasia in children: A tip to find the abnormality.

Objective: To demonstrate an association between magnetic resonance imaging (MRI) findings and pathologic characteristics in children who had surgery for medically refractory epilepsy due to focal cortical dysplasia (FCD).

Methods: We retrospectively studied 110 children who had epilepsy surgery. Twenty-seven patients with FCD were included.

Pediatric status epilepticus: identification and evaluation.

Purpose Of Review: Status epilepticus is an acute neurologic emergency, the incidence of which is increasing in the United States as the definition evolves and our detection abilities improve. We will present the current definition of status epilepticus, including a recently modified operational definition for use in the clinical setting. We will also provide updates on identifying children in status epilepticus, etiologic considerations, and the rationale for diagnostic testing.

Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy.

Objective: To characterize a novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy.

Design: Genomic DNA was isolated from blood and submitted for commercial testing. The identified missense mutation was confirmed in brain DNA obtained at autopsy.

Identification and evaluation of the child in status epilepticus.

Status epilepticus (SE) is an acute neurologic emergency that requires prompt recognition and initiation of treatment. Recognition can be difficult because SE comes in many forms and has been defined differently over the past decade. We present the general consensus definition of SE and how to use the definition, including a modified operational definition, to guide management.

Utility of functional MRI in pediatric neurology.

Functional MRI (fMRI), a tool increasingly used to study cognitive function, is also an important tool for understanding not only normal development in healthy children, but also abnormal development, as seen in children with epilepsy, attention-deficit/hyperactivity disorder, and autism. Since its inception almost 15 years ago, fMRI has seen an explosion in its use and applications in the adult literature. However, only recently has it found a home in pediatric neurology.

Human substance P receptor lacking the C-terminal domain remains competent to desensitize and internalize.

Substance P receptor (SPR) and its naturally occurring splice-variant, lacking the C-terminal tail, are found in brain and spinal cord. Whether C-terminally truncated SPR desensitizes like full-length SPR is controversial. We used a multivaried approach to determine whether human SPR (hSPR) and a C-terminally truncated mutant, hSPRDelta325, differ in their desensitization and internalization.