Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures.

Objective: We aimed to describe the extent of neurodevelopmental impairments and identify the genetic etiologies in a large cohort of patients with epilepsy with myoclonic atonic seizures (MAE).

Methods: We deeply phenotyped MAE patients for epilepsy features, intellectual disability, autism spectrum disorder, and attention-deficit/hyperactivity disorder using standardized neuropsychological instruments. We performed exome analysis (whole exome sequencing) filtered on epilepsy and neuropsychiatric gene sets to identify genetic etiologies.

Paediatric autoimmune encephalopathies: clinical features, laboratory investigations and outcomes in patients with or without antibodies to known central nervous system autoantigens.

Objective: To report the clinical and investigative features of children with a clinical diagnosis of probable autoimmune encephalopathy, both with and without antibodies to central nervous system antigens.

Method: Patients with encephalopathy plus one or more of neuropsychiatric symptoms, seizures, movement disorder or cognitive dysfunction, were identified from 111 paediatric serum samples referred from five tertiary paediatric neurology centres to Oxford for antibody testing in 2007-2010. A blinded clinical review panel identified 48 patients with a diagnosis of probable autoimmune encephalitis whose features are described.

Spinal stability is improved by inducing a lumbar lordosis in boys with Duchenne Muscular Dystrophy: a pilot study.

The development of scoliosis in boys with Duchenne Muscular Dystrophy (DMD) is a significant, morbid event in the progression of the disease caused by progressive spinal musculature weakness. As an alternative to muscle activity, the spine can also be stabilised by locking the articular facet joints, which is achieved when the body is supported on a seat tilted anteriorly using a 'wedge', of the kind commonly recommended for low back pain. We tested spinal stability when using a seat tilted 15 degrees anteriorly in eight boys with DMD, without significant scoliosis, by measuring the ability to support a lateral load applied to the thorax through a sling and hawser.