Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The laboratory hallmark of BCECTS is the rolandic discharge (RD) in the EEG of patients, occurring in a characteristic topographical, vigilance-related, event-related, and age-related pattern, disappearing during puberty. RDs are present in 2% of healthy children. About 8% of children with RDs have epilepsy. An increased prevalence rate of RDs is found in children with cognitive and behavioral disorders, with headaches and some genetic syndromes. In some patients, the cognitive disorders are transient but in others they are progressive, resulting in stable mental retardation after puberty. A recent study of 36 BCECTS patients addressed the following questions. (1) the possible relationship between the severity of RDs and the neuropsychological deficits; (2) the profile of neuropsychological deficits; (3) changes of cognition related to EEG changes; and (4) effects of therapy. No correlation was found between global IQ and the severity of the RDs. All the children had at least one specific learning disorder (sometimes long-lasting). When the children were treated, a correlation between cognitive and EEG improvement could not be demonstrated. Recently, 21 patients without epilepsy but with attention deficit and hyperactivity and/or learning disorders were studied: an open treatment trial with sulthiame resulted in improved sustained and selective attention. The neurobiology of RDs and their relationship to cognitive dysfunction and epilepsy requires further study.
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PMID:The spectrum from BCECTS to LKS: The Rolandic EEG trait-impact on cognition. 1710 66

Alternating hemiplegia of childhood (AHC) is a severe brain disorder, mainly characterised by episodes of hemiplegia, progressive mental retardation, and other severe paroxysmal and permanent neurological symptoms. Clinically and genetically, there is some overlap with sporadic (SHM) and familial (FHM) hemiplegic migraine, a severe monogenic subtype of migraine. Although no mutations were detected in the FHM1 CACNA1A and FHM2 ATP1A2 genes in sporadic AHC patients, a mutation was found in the FHM2 ATP1A2 gene in a family with AHC. Recently, a missense mutation was found in the SLC1A3 gene that encodes the glutamate transporter EAAT1, in a patient with alternating hemiplegia, episodic ataxia, seizures, and headache. Because of the remarkable clinical similarities and the potential role of glutamate in AHC, we analysed six sporadic patients with AHC for mutations in the SLC1A3 gene. No mutations were found. The SLC1A3 EAAT1 glutamate transporter gene does not seem to be involved in the pathogenesis of AHC.
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PMID:Alternating hemiplegia of childhood: no mutations in the glutamate transporter EAAT1. 1723 10

The authors describe the clinical and radiological findings in a case of brainstem arteriovenous malformation (AVM) associated with a hepatic patent ductus venosus (PDV) in a 12-year-old child. The AVM was discovered on magnetic resonance (MR) imaging performed because of slight mental retardation and headache. The malformation was otherwise asymptomatic and no treatment was proposed. An abdominal ultrasonography study performed 1 year later because of hyperammonemia revealed a PDV, which was surgically ligated. One year later, MR images and angiograms showed complete resolution of the brainstem AVM. This report is the first documentation of an association between these two entities in the same patient, and the possible pathophysiological interactions between them are discussed.
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PMID:Spontaneous occlusion of brainstem arteriovenous malformation following ligature of a hepatic patent ductus venosus. Case report and review of the literature. 1733 May 44

A pilot study of the Agrabiah area in Al-Khobar was undertaken to field test study methodologies and identify possible limitations and constraints to a planned community survey for neurological disorders in the Eastern Province of Saudi Arabia. The survey used a pre-tested questionnaire administered by trained personnel to all subjects living within 50 blocks randomly selected from the 198 inhabited ones in the area. Subjects with abnormal responses on screening were then evaluated by neurologists using specific guidelines and criteria to establish the diagnosis of neurological disease. One thousand four hundred and eighty-five subjects (98.3% of all eligible subjects) were screened: 227 (15%) had abnormal responses. Of the 202 subsequently evaluated by neurologists, 178 had definite neurological disease. The overall crude prevalence rate (PR) per 1000 population for neurological morbidity was 120.5 (95% confidence limits [CL] 103.5 to 136.5). Headache syndromes (PR 99.7, CL 83 to 114.7) were common. The other common disorders were seizures (PR 10.2, CL 5.1 to 15.3), peripheral nerve disorders (PR 2.7), and stroke (PR 2.0). Mental retardation and cerebral palsy were the main pediatric problems with PRs of 1.4 and 0.7 respectively. Our results show that a community survey for neurological disorders is feasible in Saudi Arabia and the modified questionnaire was a good screening instrument (sensitivity 94.7%, specificity 96.8%). However, the findings on the pattern and prevalence of neurological disorders need to be viewed with caution, particularly against the background of the scope of the study and the small number of subjects assessed. Cultural practices, local time and social events, and climatic conditions significantly affected community participation and the coverage achieved by the study. These factors should be considered when planning community surveys in Saudi Arabia and other environments with similar sociocultural settings.
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PMID:Community survey of neurological disorders in Saudi Arabia: Results of the pilot study in Agrabiah. 1758 96

Lamotrigine (LTG, Lamictal), one of the newer antiepileptic drugs, was admitted to the Dutch market in 1996. It was first used as adjunctive therapy and later as a monotherapy in partial and generalized epilepsy. All patients who started on LTG in 1996 or 1997 in the Epilepsy Centre Kempenhaeghe (n=314) were enrolled in this study and followed for 48 months. The data indicate that the retention rates for LTG after 1, 2, 3, and 4 years are respectively 74.4, 69.3, 63.1, and 55.6%. Patients with normal cognitive function were more likely to continue than patients with mental retardation. The main reason for discontinuing LTG therapy was lack of efficacy (19.1%). Four patients (1.4%) were seizure-free for the total follow-up period of 48 months. The most frequently reported negative side effects were dizziness and headache, both in patients who continued and in those who discontinued therapy. A large percentage of patients also reported positive side effects like "feeling/being more active" and "feeling more clear/more responsive." For the whole patient group, the plasma level of LTG was measured 277 times. Plasma levels of LTG were influenced by the patients' comedications. Plasma levels of LTG in groups taking LTG in monotherapy, LTG plus an inducer, and LTG plus valproate were 8.7, 4.8, and 8.7 mg/L, respectively. The correlation between measured plasma level and dose confirm the manufacturer's dose recommendations. The manufacturer recommends half the dosage of lamotrigine monotherapy when the patient also uses valproate. When the patient uses an inducer, the dosage of LTG must be two times the dose used in monotherapy.
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PMID:Lamotrigine in clinical practice: long-term experience in patients with refractory epilepsy referred to a tertiary epilepsy center. 1809 78

Mutations in CACNA1A were previously described in familial hemiplegic migraine, episodic ataxia type 2, and spinocerebellar ataxia type 6. We report on an 11-year-old girl with episodes of seizures, ataxia, headache, a decreased level of consciousness, and motor regression, with a background of mental retardation and mild cerebellar atrophy. Sequence analysis of the CACNA1A gene revealed a de novo Ile712Val sequence variant, which was not reported previously.
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PMID:Stepwise developmental regression associated with novel CACNA1A mutation. 1894 May 63

A retrospective cohort design of Medicaid medical and pharmacy claims for 1996 through 2005 was employed for 14,171 children and adolescents prescribed an antidepressant medication and a random sample of 4500 children not treated with any class of psychotropic medication to compare the prevalence rates of cardiovascular and neurological adverse events. The treated cohort evinced a higher prevalence of cardiovascular events, orthostatic hypotension, seizures, insomnia, and headaches. In the treated cohort, patients were at a significantly higher risk for incident cardiovascular events when exposed to selective serotonin reuptake inhibitors and weight-inducing antidepressants, mood stabilizers, and antipsychotics. Incident orthostatic hypotension was associated with weight-inducing antidepressants and mood stabilizers. Incident seizures and extrapyramidal symptoms were unrelated to antidepressant or co-prescribed psychotropic medications, but both were significantly associated with comorbid central nervous system, organic brain/mental retardation, or preexisting cardiovascular or cerebrovascular conditions. Headaches and dizziness were significantly related to taking mood stabilizers.
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PMID:Cardiovascular and neurological adverse events associated with antidepressant treatment in children and adolescents. 1925 88

Tuberous sclerosis complex is an autosomal dominant disorder affecting primarily the central nervous system, skin, and kidney caused by mutations in the TSC1 and TSC2 genes. Diagnosis is established with the identification of various neurocutaneous symptoms and multiple organ system hamartomas. The authors report on a 9-year-old patient with episodes of vertigo and headache followed by full spontaneous recovery. There was no history of seizures, mental retardation, or other neurologic sequelae, and psychomotor development was normal. Magnetic resonance imaging revealed pial angiomatosis of the left cerebellum and calcifications in the left parieto-occipital lobe consistent with the diagnosis of Sturge-Weber syndrome. At the age of 13, multiple renal angiomyolipomas and a single hypomelanotic macule were found, and subsequent imaging revealed several cortical tuberi. The diagnosis was confirmed by sequence analysis, which identified a novel missense mutation p.Ala460Thr in exon 13 of the TSC2 gene. Thus, mild tuberous sclerosis due to a hypomorphic mutation in TSC2 may present with isolated leptomeningeal angiomatosis.
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PMID:Unusual radiological presentation of tuberous sclerosis complex with leptomeningeal angiomatosis associated with a hypomorphic mutation in the TSC2 gene. 1925 84

Seckel syndrome is an autosomal recessive disorder characterized by intrauterine and postnatal growth delay, microcephaly with mental retardation, and facial dysmorphisms including micrognathia, a recessed forehead, and a large beaked nose. Occurring in 1 in 10,000 children without sex preference, it is the most common primordial microcephalic osteodysplastic dwarfism and has been associated with a variety of congenital brain malformations and intracranial aneurysms. Moyamoya syndrome is an idiopathic, chronic, progressive cerebrovascular disorder marked by stenosis of the intracranial internal carotid arteries and concurrent development of hypertrophied collateral vessels. These tortuous arterial collaterals appear radiographically as "puffs of smoke," giving the syndrome its name. In this report, the authors describe the case of a 16-year-old girl with coincident Seckel and moyamoya syndromes. To their knowledge, this is the first reported case of such an association being treated with surgical revascularization. The patient presented with persistent headaches and a 2-year history of progressive hand, arm, and face numbness. Imaging studies revealed multiple completed cerebral infarcts, global ischemic changes, and vascular anatomy consistent with moyamoya syndrome. Bilateral pial synangioses successfully revascularized each hemisphere with resolution of the patient's symptoms. The patient died 1 year later of complications related to treatment of a rapidly progressing intracranial aneurysm. This report documents the first case associating moyamoya and Seckel syndromes. In addition, the report reveals the rapid development of an intracranial aneurysm in a patient with this syndrome. When coupled with previous reports of other types of cerebrovascular disease in patients with Seckel syndrome or other primordial dwarfisms, the authors' findings are important because they suggest that physicians treating patients with dwarfism should consider the diagnosis of moyamoya syndrome when symptoms suggestive of cerebral ischemia are present. Prompt diagnosis and treatment of moyamoya syndrome, including the use of proven surgical revascularization procedures such as pial synangiosis, may significantly improve the long-term outcomes of these patients.
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PMID:Seckel syndrome and moyamoya. 1933 12

To identify the factors associated with incident neurological and cardiovascular adverse events in children and adolescents treated with antimanic agents, a retrospective, longitudinal study was conducted. Medicaid medical and pharmacy claims between January 1996 and December 2005 were used to identify 3657 children and adolescents prescribed antimanic medications, and a random sample of 4500 children not treated with psychotropic medications. All adverse events examined (sedation/drowsiness, headaches, involuntary movements/extrapyramidal symptoms (EPS), cardiovascular events, hypertension, and orthostatic hypotension) were more prevalent in the antimanic-treated cohort. The odds of developing incident sedation/drowsiness and headaches were significantly higher for those prescribed carbamazepine, and co-prescribed selective serotonin reuptake inhibitors or antipsychotics. The odds of incident involuntary movements/EPS were significantly higher for those co-prescribed antimanic and antipsychotic agents, and those with comorbid central nervous system (CNS), organic brain disorders/mental retardation, or epilepsy. Incident cardiovascular events, hypertension, and orthostatic hypotension odds were significantly higher for those co-prescribed antimanic agents and antipsychotics, or those with comorbid epilepsy or metabolic conditions. Co-prescription of antimanic and antipsychotic agents is more likely associated with neurological and cardiovascular adverse reactions, especially in young patients with preexisting CNS/neurological disorders.
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PMID:Neurological and cardiovascular adverse events associated with antimanic treatment in children and adolescents. 1976 97


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