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1. A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations Read More......
2. Intractable seizures after a lengthy remission in childhood-onset epilepsy Summary Objectives To establish the risk of subsequent intractable epilepsy after ≥2, ≥5, and ≥10 years of remission in childhood-onset epilepsy. Methods From the Nova Scotia childhood-onset epilepsy population-based cohort patients with all types of epilepsy were selected with ≥20 years follow-up from seizure onset (incidence cases). Children with childhood...
3. A case of childhood onset of treatable sensory neuronopathy caused by mutations in riboflavin transporter RFVT2 presenting as pure sensory ataxia with excellent response to riboflavin – a five year follow up Childhood onset neuronopathies are a clinically heterogeneous group of disorders. Its original description is known as Brown-Vialetto-Van Laere syndrome and characterized by motor neuronopathy with early onset of bulbar palsy, hearing loss and respiratory failure. Sensorimotor neuronopathy was described later. No treatment was available for this neurodegenerative disorder until recent...
4. A boy with bilateral SUNA: A case report Cephalalgia, Ahead of Print. Read More...Read More......