Search PubMed⌕ Search

Biomedical subjects

Peter Baxter

Publications and source records attributed to Peter Baxter.

At least 19 recordsLinked to original sources
PubMed2006

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.

Aicardi-Goutières syndrome (AGS) is an autosomal recessive neurological disorder, the clinical and immunological features of which parallel those of congenital viral infection. Here we define the composition of the human ribonuclease H2 enzyme complex and show that AGS can result from mutations in the genes encoding any one of its three subunits. Our findings demonstrate a role for ribonuclease H in human neurological disease and suggest an unanticipated relationship between ribonuclease H2 and the antiviral immune response that warrants further investigation.

Amino Acid Sequence↗
PubMed2006

Congenital corectopia (eccentric pupils): a marker for chromosomal and central nervous system abnormality.

We present a case series of five children with congenital corectopia without any associated ocular cause: three had chromosomal abnormalities; one a probable prenatal diplegia, and one bilateral perisylvian dysplasia with vermian and midbrain hypoplasia. Bilateral congenital corectopia is an ophthalmic sign that merits chromosomal analysis and neuro-developmental assessment.

Brain↗
PubMed2006

Mutations in antiquitin in individuals with pyridoxine-dependent seizures.

We show here that children with pyridoxine-dependent seizures (PDS) have mutations in the ALDH7A1 gene, which encodes antiquitin; these mutations abolish the activity of antiquitin as a delta1-piperideine-6-carboxylate (P6C)-alpha-aminoadipic semialdehyde (alpha-AASA) dehydrogenase. The accumulating P6C inactivates pyridoxal 5'-phosphate (PLP) by forming a Knoevenagel condensation product. Measurement of urinary alpha-AASA provides a simple way of confirming the diagnosis of PDS and ALDH7A1 gene analysis provides a means for prenatal diagnosis.

Aldehyde Dehydrogenase↗
PubMed2006

Diagnosing epilepsy.

We know how important it is to diagnose epilepsy correctly, but how to do so is surprisingly little validated. An inadequate history and misinterpretation of the electroencephalogram (EEG) are the major reasons 4 to 26% of children and adults in European studies are misdiagnosed with epilepsy. Error rates are not available for most countries, or for more precise diagnoses of seizure types, epilepsy syndrome, and cause.

Adult↗
PubMed2005

CP or not CP?

Explore the source record for details and available documents.

Cerebral Palsy↗
PubMed2004

Plus ça change?

Explore the source record for details and available documents.

Child↗
PubMed2003

Pyridoxine-dependent seizures: a clinical and biochemical conundrum.

Pyridoxine-dependent seizures have been recognised for 40 years, but the clinical and biochemical features are still not understood. It is a rare recessively inherited condition where classically a baby starts convulsing in utero and continues to do so after birth, until given pyridoxine. Many of these early onset cases also have an acute encephalopathy and other clinical features. Late onset cases are now recognised with a less severe form of the condition. Seizures can break through with intercurrent illness but otherwise remain controlled on pharmacologic doses of pyridoxine. The long-term outcome is affected by several factors including whether onset is early or late and how soon pyridoxine is given. Biochemical studies have been sparse, on very small numbers. There does not appear to be any defect in the uptake or metabolism of pyridoxine or pyridoxal phosphate (PLP). For a long time glutamic acid decarboxylase (GAD), a pyridoxal-dependent enzyme, has been suspected to be the abnormal gene product, but glutamate and gamma-aminobutyric acid (GABA) studies on the cerebrospinal fluid (CSF) have been contradictory and recent genetic studies have not found any linkage to the two brain isoforms. A recent report describes raised pipecolic acid levels in patients but how this ties in is unexplained.

Drug Overdose↗
PubMed2003

Idiopathic catastrophic epileptic encephalopathy presenting with acute onset intractable status.

PURPOSE: To delineate a catastrophic childhood epileptic syndrome of unknown cause presenting with persistent intractable multifocal status. METHODS: Case note review. RESULTS: Six children aged 5 months to 6 years presented with focal seizures that progressed within days to intractable multifocal seizures with or without secondary generalisation, which recurred every few minutes and persisted for weeks. One developed impaired consciousness shortly before seizures started. The two younger children showed mild developmental delay before onset but the others were normal. The seizures were unresponsive to all conventional anticonvulsants, steroids or pyridoxine and could only be controlled with doses of thiopentone sufficient to cause electrical suppression. MRI scans were initially normal but later showed focal cortical swelling followed by generalised atrophy. Two developed hepatomegaly, with a normal liver biopsy in one and steatosis in the other. No cause has been found even after neuropathological investigation. Three have died, two within 3 months of onset, while the three survivors have very severe neurological impairment and continued seizures. CONCLUSION: The similarity of the clinical features suggests that this is a consistent clinical syndrome.

Anesthetics, Intravenous↗