Ion channels and epilepsy.
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Anticonvulsants↗
Biomedical subjects
T D Graves
Publications and source records attributed to T D Graves.
Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A.
Episodic ataxia type 2 (EA2) is caused by calcium channel (CACNA1A) mutations and typically begins before age 20 years. The molecular basis of late-onset EA2 is unclear. The authors describe a case of late-onset EA2 associated with the first multiple-base pair insertion in CACNA1A. Molecular expression revealed evidence of impaired calcium channel function, suggesting that genetically induced reduction in calcium channel function may associate with cases of late-onset EA2.
Adult↗
Neurological channelopathies.
Ion channels are membrane-bound proteins that perform key functions in virtually all human cells. Such channels are critically important for the normal function of the excitable tissues of the nervous system, such as muscle and brain. Until relatively recently it was considered that dysfunction of ion channels in the nervous system would be incompatible with life. However, an increasing number of human diseases associated with dysfunctional ion channels are now recognised. Such neurological channelopathies are frequently genetically determined but may also arise through autoimmune mechanisms. In this article clinical, genetic, immunological, and electrophysiological aspects of this expanding group of neurological disorders are reviewed. Clinical situations in which a neurological channelopathy should enter into the differential diagnosis are highlighted. Some practical guidance on how to investigate and treat this complex group of disorders is also included.
Autoimmune Diseases↗
Misdiagnosis of seizures: insulinoma presenting as adult-onset seizure disorder.
Once diagnosed with a refractory seizure disorder, patients often receive aggressive and escalating pharmacotherapy. However, a significant proportion of patients referred to neurologists do not have epilepsy. Toxic and metabolic causes of seizures should always be considered as they are potentially curable, and may be fatal if untreated. The following case report highlights the need for careful reassessment of all seizures that are atypical and refractory to medication.
Adult↗
Stress and health among Polynesian migrants to New Zealand.
A survey study of 228 Samoans, 212 Cook Islanders, and 224 native-born New Zealanders of European background randomly selected from the same working-class neighborhoods of Auckland was interviewed in their own language by same-sex interviewers on their adaptation to life in New Zealand's major industrial city. Strong positive associations were found between the number of symptoms of poor health reported and both the frequency of external situational stressors and the strength of Type A psychological attributes, which together account for 25% of the variance in health status. These statistical relationships were replicated within all ethnic and both sex groups. Social support systems, however, did not provide the stress-buffering effects anticipated, raising the issue of the possible psychic costs of maintaining these kinship ties, particularly among Samoan migrants.
Acculturation↗
Patterns of public drinking in a multiethnic society. A systematic observational study.
Systematic observations of 216 New Zealand men--Maoris, Pacific Islanders and Europeans--produced a causal model replicated within each ethnic group: drinking-group size determines time spent in the pub, which determines glasses of beer consumed; group size and time spent in the pub accounted for 69% of ethnic differences in consumption.
Alcohol Drinking↗