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 morphological features of centrotemporal spike discharges (CTSD) and relationship of them with clinical diagnosis in cases with benign epilepsy of childhood with centrotemporal spikes (BECTS) and the other epileptic syndromes of childhood as well as some nonconvulsive neurological disorders were detected in the routine patient population who referred to the authors' EEG laboratory. Thirty-six cases (21 males, 15 females; 8 months-14 years old), in which awake and/or sleep EEGs revealed CTSD were included in this study. The cases were divided into two groups as epileptic and nonepileptic. The cases with seizure were divided into BECTS and the other epilepsies. Of the epileptic cases, 14 (38.8%) patients had typical rolandic seizures. In five cases, there were partial or secondary generalized seizures. Two cases had myoclonic seizures. In the nonepileptic group, there was mental retardation/behavioral disturbances in five cases; there were periodic syndromes of childhood such as migraine and equivalents of migraine in three cases; febrile convulsion in three cases, breath-holding spells in two cases, and primary enuresis nocturna in two cases. In the nonepileptic group, the discharges were significantly fewer than the other groups (p = .014). More frequent discharges occuring for shorter periods were more significantly observed in BECTS group (64%). Typically isolated spike and slow-waves in T3/T4 and C3/C4 location were significantly more common (86%) in rolandic epilepsy group (p = .01). The EEGs of cases with BECTS had more frequency in the cluster of discharges than the other groups (p = .018). Multifocal discharges were observed in 28.5% of cases with BECTS, in 20% of nonepileptic group, and in 71.4% of other epileptics in the trial. Although these epileptic and nonepileptic conditions have some differences in view of frequency and morphology and location, CTSDs could be manifested in the group without seizure. It was concluded that the similar focal abnormalities which could be seen in rolandic epilepsy may be observed in the other epileptic or nonepileptic disorders of childhood and this condition may be originated from the involvement of similar central structures.
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PMID:Comparison of epileptic and nonepileptic cases with centrotemporal spikes in view of clinical findings and electroencephalographic characteristics. 1648 56

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

Familial hemiplegic migraine (FHM) is a severe dominant form of migraine with aura associated with transient hemiparesis. Several other neurological signs and symptoms can be associated with FHM such as cerebellar abnormalities, cerebral edema and coma after minor head trauma, epileptic seizures and mental retardation. The sporadic form of hemiplegic migraine named SHM, presents with identical clinical symptoms. Here we report a case of a young hemiplegic migraine patient, 11 years old, who had the first hemiplegic attack at the age of 10 years. This patient has a clinical history of epileptic seizures in the childhood successfully controlled with drug therapy. No familiarity for any type of migraine or seizures can be observed within the paternal or maternal line. The patient who can therefore be considered a sporadic case, carries a novel de novo nonsense mutation p.Tyr1009X in the ATP1A2 gene (FHM2), leading to a truncated alpha-2 subunit of the Na+/K+-ATPase pump thus lacking the last 11 amino acids. The novel mutation identified confirms the role of FHM2 gene in forms of hemiplegic migraine associated with epilepsy with both familial and sporadic occurrence, and expands the spectrum of mutations related to these forms of the disease.
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PMID:A novel de novo nonsense mutation in ATP1A2 associated with sporadic hemiplegic migraine and epileptic seizures. 1864 8

Epilepsy is a chronic condition that may be associated with several other diseases. In these cases, we should consider the following points: (1) antiepileptic drug (AED) treatment may positively or negatively affect comorbid disease, (2) drugs used for treatment of co-morbid disease may influence seizure threshold, (3) AED toxicity can be affected by a comorbid condition and (4) co-administration of AEDs with drugs used for treatment of comorbid conditions can be associated with clinically relevant drug-drug interactions. In this article, we discuss problems that are usually encountered when an appropriate AED treatment has to be selected in newly diagnosed epileptic patients who also have (an)other neurological disease(s). Comorbidity of epilepsy with cerebrovascular diseases, dementias, mental retardation, attention deficit and hyperactivity disorder, brain tumours, infections of the CNS, migraine, sleep disturbances (obstructive sleep apnoea syndrome), substance abuse and multiple sclerosis is discussed.
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PMID:Neurological comorbidity and epilepsy: implications for treatment. 1952 25

Fragile X syndrome (FXS) is the leading cause of inherited mental retardation, due to expansion and methylation of the CGG sequence at the 5' UTR of the FMR1 gene. Around 90% of affected boys present with attention deficit hyperactivity disorder (ADHD), while this percentage is lower in FXS girls (35-47%). Treatment of these behavioral symptoms is critical for many families. In an attempt at identifying drugs capable of restoring the activity of the FMR1 gene, we investigated the use of valproic acid (VPA), a well-known antiepileptic drug, also used as a mood stabilizer and in migraine therapy. It is described as an inhibitor of histone deacetylase (HDAC) and, possibly, as a DNA demethylating agent. In an in vitro study we observed that treatment of lymphoblastoid cells from FXS patients with VPA caused a modest reactivation of FMR1 transcription and increased levels of histone acetylation, confirming the histone hyperacetylating effect, but not its putative DNA demethylating activity. On the basis of these findings, we decided to evaluate the in vivo efficacy of VPA on ADHD symptoms in FXS patients. We observed an improvement in the adaptive behavior, defined as the performance of daily activities required for personal and social competence, due to a significant reduction in hyperactivity after VPA treatment. This treatment could be considered as an alternative to that with stimulants, whose efficacy in patients with FXS needs to be confirmed by further studies.
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PMID:Treatment with valproic acid ameliorates ADHD symptoms in fragile X syndrome boys. 2073 28

Hemiplegic migraine (HM) is a rare and severe subtype of migraine with aura, characterized by some degree of hemiparesis and other aura symptoms. Mutations in three genes (CACNA1A, ATP1A2 and SCN1A) have been detected in familial and, more rarely, in sporadic cases. The disease can be complicated by permanent neurological deficits, the most frequent one being a cerebellar syndrome; in addition, mental retardation has been recognized as part of the phenotypic spectrum. Here, we report a Caucasian male with a novel CACNA1A mutation and an unusual clinical phenotype: the patient, who had had a history of only two HM attacks, sought medical advice at age 49 primarily because of increasing cognitive decline accompanied by cerebellar dysfunction. While common neurodegenerative causes were excluded, neuropsychological evaluation revealed a distinct profile of deficits of a subcortico-prefrontal type as previously reported in patients with cerebellar dysfunction. This suggests a possible causal link between cerebellar and cognitive disturbances in this patient; in addition to these pathophysiological aspects, we review of the role of the cerebellum in cognition.
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PMID:A novel mutation in CACNA1A associated with hemiplegic migraine, cerebellar dysfunction and late-onset cognitive decline. 2103 46

Hemiplegic migraine is a rare form of migraine with aura that involves motor aura (weakness). This type of migraine can occur as a sporadic or a familial disorder. Familial forms of hemiplegic migraine are dominantly inherited. Data from genetic studies have implicated mutations in genes that encode proteins involved in ion transportation. However, at least a quarter of the large families affected and most sporadic cases do not have a mutation in the three genes known to be implicated in this disorder, suggesting that other genes are still to be identified. Results from functional studies indicate that neuronal hyperexcitability has a pivotal role in the pathogenesis of hemiplegic migraine. The clinical manifestations of hemiplegic migraine range from attacks with short-duration hemiparesis to severe forms with recurrent coma and prolonged hemiparesis, permanent cerebellar ataxia, epilepsy, transient blindness, or mental retardation. Diagnosis relies on a careful patient history and exclusion of potential causes of symptomatic attacks. The principles of management are similar to those for common varieties of migraine, except that vasoconstrictors, including triptans, are historically contraindicated but are often used off-label to stop the headache, and prophylactic treatment can include lamotrigine and acetazolamide.
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PMID:Sporadic and familial hemiplegic migraine: pathophysiological mechanisms, clinical characteristics, diagnosis, and management. 2145 76

Leber's hereditary optic neuropathy (LHON) is a maternally inherited, monosymptomatic disorder, characterized by severe central vision loss and optic atrophy that most frequently affects young men. The classic LHON phenotype is associated to three mitochondrial DNA mutations, mostly homoplasmic, in the Mt-ND4, Mt-ND6, and Mt-ND1 genes, encoding for complex I subunits of the mitochondrial respiratory chain. Rare cases have been described in the literature in association with variable central nervous system involvement in a syndromic form called LHON 'plus.' In the present study, we report the case of a 16-year-old boy with the 3460/ND1 mutation who presented with epilepsy, migraine, and mental retardation as non-ophthalmic features. We also investigated his relatives who all had the 3460/ND1 mutation.
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PMID:Bilateral progressive visual loss in an epileptic, mentally retarded boy. 2157 39

Toxoplasmosis is one of the most common parasitic diseases worldwide. Although estimated that one third of the world's population are infected with Toxoplasma gondii, but the most common form of the disease is latent (asymptomatic). On the other hand, recent findings indicated that latent toxoplasmosis is not only unsafe for human, but also may play various roles in the etiology of different mental disorders. This paper reviews new findings about importance of latent toxoplasmosis (except in immunocompromised patients) in alterations of behavioral parameters and also its role in the etiology of schizophrenia and depressive disorders, obsessive-compulsive disorder, Alzheimer's diseases and Parkinson's disease, epilepsy, headache and or migraine, mental retardation and intelligence quotients, suicide attempt, risk of traffic accidents, sex ratio and some possible mechanisms of T. gondii that could contribute in the etiology of these alterations.
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PMID:Latent toxoplasmosis and human. 2313 66

Hemiplegic migraine (HM) is a rare and severe subtype of autosomal dominant migraine, characterized by a complex aura including some degree of motor weakness. Mutations in four genes (CACNA1A, ATP1A2, SCN1A and PRRT2) have been detected in familial and in sporadic cases. This genetically and clinically heterogeneous disorder is often accompanied by permanent ataxia, epileptic seizures, mental retardation, and chronic progressive cerebellar atrophy. Here we report a mutation screening in the CACNA1A and ATP1A2 genes in 18 patients with HM. Furthermore, intragenic copy number variant (CNV) analysis was performed in CACNA1A using quantitative approaches. We identified four previously described missense CACNA1A mutations (p.Ser218Leu, p.Thr501Met, p.Arg583Gln, and p.Thr666Met) and two missense changes in the ATP1A2 gene, the previously described p.Ala606Thr and the novel variant p.Glu825Lys. No structural variants were found. This genetic screening allowed the identification of more than 30% of the disease alleles, all present in a heterozygous state. Functional consequences of the CACNA1A-p.Thr501Met mutation, previously described only in association with episodic ataxia, and ATP1A2-p.Glu825Lys, were investigated by means of electrophysiological studies, cell viability assays or Western blot analysis. Our data suggest that both these variants are disease-causing.
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PMID:Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies. 2449 17


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