Surgical implications of cerebral dysgenesis.

Wiring, dysmorphogenesis and epilepsy: A hypothesis

Cerebral cortical dysgenesis has been found by magnetic resonance imaging to be the second most common pathology underlying medically refractory chronic partial epilepsy. Patients with the latter condition form the largest group in specialist epilepsy clinics. The pathogenesis of the epilepsy in cortical dysgenesis remains largely obscure. The most popular current hypothesis holds neuronal misc...

Cednik

Synaptosomal-associated protein 29 (SNAP29) is a t-SNARE protein that is implicated in intracellular vesicle fusion. Mutations in the SNAP29 gene have been associated with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome (CEDNIK). In patients with 22q11.2 deletion syndrome, mutations in SNAP29 on the nondeleted chromosome are linked to similar ichthyotic and neurological ph...

CEDNIK: Phenotypic and Molecular Characterization of an Additional Patient and Review of the Literature.

Synaptosomal-associated protein 29 (SNAP29) is a t-SNARE protein that is implicated in intracellular vesicle fusion. Mutations in the SNAP29 gene have been associated with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome (CEDNIK). In patients with 22q11.2 deletion syndrome, mutations in SNAP29 on the nondeleted chromosome are linked to similar ichthyotic and neurological ph...

Surgical Needs of Refugee Populations in the European ::union::: Implications for Plastic and Reconstructive Surgery

Corpus callosum dysgenesis limits MRI changes to one hemisphere in status epilepticus.

A 46-year-old man with cerebral palsy presented with complex partial seizures and left sided clonic movements. EEG showed right hemispheric seizures (figure 1). MRI demonstrated dysgenesis of the corpus callosum (figure 2, A and B) with hyperintense signal throughout the right cortex in diffusion-weighted imaging (DWI) (figure 2C) corresponding with decreased apparent diffusion coefficient sign...