Childhood chronic inflammatory demyelinating polyneuroradiculopathy--three cases and a review of the literature.

Background: Chronic inflammatory demyelinating polyneuroradiculopathy (CIDP) is an autoimmune disease of the peripheral nervous system, causing demyelination and even axonal degeneration. In children, abnormal gait as a first sign of muscle weakness is a frequent reason to seek medical attention. Diagnosis is made on the basis of clinical characteristics, electromyography and nerve conduction studies, and elevated protein in cerebrospinal fluid.

Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy.

Mutations in the alpha-subunit of the first neuronal sodium channel gene SCN1A have been described in isolated patients with severe myoclonic epilepsy in infancy or Dravet syndrome and in families with generalized epilepsy with febrile seizures plus. To find phenotype/genotype correlations, we reviewed all published cases of mutations in SCN1A in addition to four new patients reported here. A total of 60 mutations were observed.