Robert Ouvrier
YOU?
Author Swipe
View article: Peripheral nerve disease secondary to systemic conditions in children
Peripheral nerve disease secondary to systemic conditions in children Open
This review is an overview of systemic conditions that can be associated with peripheral nervous system dysfunction. Children may present with neuropathic symptoms for which, unless considered, a causative systemic condition may not be rec…
View article: Status Epilepticus in Children: A Study of 54 Cases
Status Epilepticus in Children: A Study of 54 Cases Open
Objectives: To review the clinical character, the management and outcome of status epilepticus in children. Methodology: We conducted a retrospective review of 54 cases treated between 1996 and 1997 at the Royal Alexandra Hospital for Chil…
View article: <i>CNTNAP1</i> mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis
<i>CNTNAP1</i> mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis Open
CNTNAP1 mutations have recently been linked to patients with arthrogryposis multiplex congenita. However, we show that arthrogryposis is not an obligate feature. CNTNAP1-related disorders are foremost severe hypomyelinating disorders of th…
View article: Fifty years of paediatric neurology in Australasia
Fifty years of paediatric neurology in Australasia Open
Prior to the eighteenth century, the concept of childhood as we see it today did not exist, and children were only infrequently the subject of scientific or medical study (1).Paediatrics developed as a distinct field of medicine in the lat…
View article: Phenotypic insights into <i>ADCY5</i>‐associated disease
Phenotypic insights into <i>ADCY5</i>‐associated disease Open
Background Adenylyl cyclase 5 ( ADCY5 ) mutations is associated with heterogenous syndromes: familial dyskinesia and facial myokymia; paroxysmal chorea and dystonia; autosomal‐dominant chorea and dystonia; and benign hereditary chorea. We …
View article: Auditory neuropathy in Brown–Vialetto–Van Laere syndrome due to riboflavin transporter RFVT2 deficiency
Auditory neuropathy in Brown–Vialetto–Van Laere syndrome due to riboflavin transporter RFVT2 deficiency Open
Aim Mutations in the genes encoding the riboflavin transporters RFVT2 and RFVT3 have been identified in Brown–Vialetto–Van Laere syndrome, a neurodegenerative disorder characterized by hearing loss and pontobulbar palsy. Treatment with rib…
View article: Eye movement disorders are an early manifestation of <i><scp>CACNA</scp>1A</i> mutations in children
Eye movement disorders are an early manifestation of <i><span>CACNA</span>1A</i> mutations in children Open
Aim The alpha‐1 isoform of the calcium channel gene is expressed abundantly in neuronal tissue, especially within the cerebellum. Mutations in this gene may manifest with hemiplegic migraine, spinocerebellar ataxia type 6 ( SCA 6) and epis…