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)

A case of musicogenic epilepsy or psychomotor seizures supervening whenever the patient hears a certain tune is presented. Nearly 70 cases of musicogenic epilepsy have been documented so far. The findings in these cases including those encountered by ourselves may be summarized as follows: Musicogenic epilepsy is more common among middle-aged persons. In an unexpectedly large proportion of cases the cause is unknown. Among the organic causes, head injury is of the highest incidence. It is quite unlikely that brain bumor is responsible. There is no dementia or mental retardation as in some forms of reflex epilepsy. The seizure is overwhelmingly of the psychomotor type. The EEG pattern often suggests temporal lobe epilepsy. There seems to be no cerebral dominance. Different kinds of music can be the inducer, ranging from those primarily intended to stimulate the sense to those appealing to affect. The activating mechanism of the condition still remains obscure. In the strict sense of the word, the condition cannot be termed reflex epilepsy.
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PMID:[About musicogenic epilepsy (author's transl)]. 70 53

The data emerging from our study are the following: the presence of an identifiable cause is important: complications like tuberous sclerosis or signs of marked cerebral damage represent an adverse risk factor for IE. The presence of epilepsy among relatives, evidence of pre- or perinatal cerebral damage, mental retardation, and early onset, long periods of uncontrolled seizures before starting an adequate therapy and frequency of seizures appear to be indicative of an adverse prognosis, since differences between the two groups of responsive or unresponsive patients are statistically significant. On the contrary, the occurrence of febrile convulsions in the past history does not seem to have an adverse prognosis. Temporal lobe epilepsy and IS bear the worst prognosis. ME, CPS, GTCS, SPS, LGS and PM have a progressively better outcome in responsiveness to AEDs. Concerning therapy in patients with IE, studies indicate the results of high dose monotherapy appear to be equal or better than with polypharmacy. Because of the gravity of the situation, trials with unconventional drugs have been performed, but it is too early to draw definite conclusions about the long-term usefulness of most of them. In conclusion, our data indicate that the appearance of an IE can be predicted utilizing the above mentioned criteria, considered either alone or in combination. The issue of IE remains undoubtedly an important one among the group of convulsive disorders. Further studies considering a greater number of patients and new therpeutic strategies are to be recommended.
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PMID:Intractable epilepsy: etiology, risk factors and treatment. 329 46

The factors relevant to intractability, types of epilepsy and impairment of dexterity in patients with intractable epilepsy were studied independently in different groups of patients. The factors relevant to intractable epilepsy that were disclosed in 202 patients, who required hospitalization more than twice, were as follows: strong seizure propensity, neuropsychiatric disorders including mental deterioration of various degrees, ataxia, personality changes and psychotic episodes, intolerance to antiepileptic drugs due to acute or chronic side effects, idiosyncrasy and internal disorders, self-induced seizure, misdiagnosis and mistreatment, and breakdown of family care of patients. The types of epilepsy in 224 patients with intractable epilepsy whose seizures were not adequately controlled and recurred on a monthly basis in spite of hospitalization were classified as follows: 101 patients with localization-related epilepsies or syndromes, 106 with generalized epilepsies or syndromes, 16 with undetermined epilepsies or syndromes and one with specific syndrome. In regard to partial epilepsies, frontal lobe epilepsy and partial epilepsy with multiple foci were at least partially intractable as temporal lobe epilepsy. With respect to intractable generalized epilepsies, miscellaneous symptomatic generalized epilepsies like intractable grand mal epilepsy with progressive mental retardation in childhood were as important as Lennox-Gastaut or West syndrome though it defies classification into any established syndromes. The proposed International Classification of Epileptic Syndromes and Epilepsies was found adequate for analysis of intractable epilepsy. The disturbance of fine motor performance found in 84 patients who participated in occupational therapy was investigated by test programs comprising nine subbatteries.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Intractable epilepsy and disturbed visuomotor performance. 344 32

The Lennox-Gastaut syndrome (LGS) is an electro-clinical syndrome of early childhood that consists of mental retardation, intractable generalized epilepsy with multiple seizure types, and typical EEG findings. We report a 64-year-old woman who was referred for presurgical evaluation with a diagnosis of intractable temporal lobe epilepsy since the age of 14 years, consisting of staring and unresponsiveness, sudden falls, and generalized convulsions. The average seizure frequency was 1-4 per month. Mental status and neurological examination were normal. There was no known etiology and magnetic resonance imaging (MRI) of the brain was normal. Interictal EEG showed findings characteristic of LGS: generalized slow spike-wave complexes, multifocal sharp waves, generalized polyspikes and paroxysmal fast activity during sleep. Despite the absence of mental retardation and the presence of normal alpha rhythm, the patient fulfills most diagnostic criteria for LGS, with unusually late onset and extremely delayed diagnosis. This case illustrates the controversial nosologic boundaries of the syndrome. Prolonged EEG video monitoring may be of value even in the elderly. The LGS and other varieties of secondary generalized epilepsy should be considered in the syndromic diagnosis of epilepsy in the elderly.
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PMID:Lennox-Gastaut syndrome in the elderly? 781 93

Although certain clinical, electroencephalographic (EEG), magnetic resonance imaging (MRI), and pathologic findings in adults with intractable temporal lobe epilepsy predict seizure outcome following temporal lobectomy, predictors of seizure outcome have not been studied systematically in pediatric temporal lobectomy series. We retrospectively analyzed preoperative clinical, EEG, and neuroimaging findings with reference to seizure outcome (seizure free or non-seizure free) in 33 children (mean age, 9.3 years) who underwent tailored temporal lobe resections for intractable temporal lobe epilepsy. Trends were apparent with (1) younger age at seizure onset, younger age at surgery, shorter duration of epilepsy, localized unilateral temporal lesions on MRI, and right-sided surgery more frequently associated with a seizure-free outcome, and (2) significant prior history, daily preoperative seizures, generalized motor seizures, mental retardation, and localized unilateral temporal epileptiform EEG activity more frequently associated with a non-seizure-free outcome. However, none of these findings, alone or in combination, correlated with postoperative seizure status at a statistically significant level. Submitting the four variables generally considered to be most predictive of favorable outcome (ie, normal intelligence, unilateral ictal and interictal EEG discharges, and focal temporal MRI lesion) to a multiple-cutoff procedure did not predict seizure freedom. Our data indicate that predictors of outcome of temporal lobectomy in adults may not apply in children, perhaps due to inherent neurobiologic differences in the etiology and expression of temporal lobe epilepsy, and should therefore not be used as sole determinants of surgical candidacy in children.
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PMID:Preoperative clinical, EEG, and imaging findings do not predict seizure outcome following temporal lobectomy in childhood. 912 Feb 21

Although many patients with epilepsy achieve control of their seizures with medication, a substantial number ultimately develop intractable epilepsy. Patients with intractable epilepsy form the group for whom surgical procedures may be beneficial. We retrospectively analyzed the clinical profile and outcome of 141 patients operated for intractable epilepsy at Vellore between 1949 and 1990. The operative procedures done for suprasylvian epilepsy were topectomy (24 cases) and lobectomy (2 cases). For temporal lobe epilepsy the surgical procedures done were topectomy (28 cases), temporal lobectomy with amygdalectomy (25 cases), temporal lobectomy with amygdalectomy and hippocampectomy (10 cases), amygdalectomy (15 cases) and topectomy with amygdalectomy in one case. Hemispherectomy was done for 12 cases with multilobe epilepsy. For multifocal epilepsy, four patients underwent stereotactic ansotomy. Post operative complications included infections (10 cases) and acute post operative haematoma in one patient. There was transient neurological deterioration in ten patients. Three patients operated prior to 1960 died due to peri operative complications. Follow up data of 80 patients, ranging from 1 to 42 years (mean 10 years) was analysed. Total or near total seizure control was obtained in 53% patients and a worthwhile outcome in 20% patients. Mental retardation, pre operative scalp electroencephalography and post excision electrocorticography has been shown to be predictors of outcome with respect to seizures.
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PMID:Epilepsy surgery : overview Of forty years experience. 1040 32

Ictal and interictal activities occurring in a mature brain can disorganize the neural network activity involved in one or various specific cognitive processes. In children, the situation might be more complex: the epileptic process occurs in a period when the cortex is still maturing and it may interfere with normal cerebral development. Although neural plasticity in children is greater than it is in adults, greater plasticity does not necessarily mean adaptive plasticity. Studies have shown that temporal lobe epilepsy in children is not systematically associated with global mental retardation. However, various difficulties in specific cognitive domains are more often found in children than in patients with adult-onset epilepsy. Language, memory, socioperceptive competence, and also executive functions, which can be impaired by the disruption of the temporofrontal circuit, are among such cognitive functions that need to be evaluated. Early detection of specific deficits is of primary importance for the implementation of appropriate remediation measures.
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PMID:Cognitive impairments in children with nonidiopathic temporal lobe epilepsy. 1710 75

Megalencephaly means an increased size or weight of a generally well-formed brain. It is a feature of a heterogeneous group of mostly familial human disorders with prenatal or early childhood onset. Seizures, motor deficits, mental retardation or milder cognitive impairment are sometimes present. This review discusses idiopathic megalencephalies with regard to possible etiology and treatment opportunities. Idiopathic megalencephalies with neurological deficits as well as unilateral megalencephaly are hypothesized to be caused by disturbances of proliferation, survival or migration of neurons in the brain. The current knowledge of postnatal and adult generation of neurons and survival of adult-borne neurons is reviewed. We show an example of how a genetic potassium channel dysfunction causes not only temporal lobe epilepsy, but also postnatal progressive megalencephaly in a mouse model. We also summarize novel data on neuro-protective effects of the antiepileptic drug carbamazepine in the treatment of brain overgrowth. Findings propose that potassium ion channelopathy may underlie disease for a group of infants or young children displaying idiopathic megalencephaly and early onset epilepsy or episodic ataxia type 1. Carbamazepine's remarkable protective effects on the neuronal plasticity in the hyperexcitable state should be further studied, and maybe this drug should be considered more in treatment of temporal lobe epilepsy and megalencephaly.
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PMID:Idiopathic megalencephaly-possible cause and treatment opportunities: from patient to lab. 1824 8

Disorders of the central nervous system (CNS) are complex disease states that represent a major challenge for modern medicine. Although aetilogy is often unknown, it is established that multiple factors such as defects in genetics and/or epigenetics, the environment as well as imbalance in neurotransmitter receptor systems are all at play in determining an individual's susceptibility to disease. Gene therapy is currently not available and therefore, most conditions are treated with pharmacological agents that modify neurotransmitter receptor signaling. Here, I provide a review of ionotropic glutamate receptors (iGluRs) and the roles they fulfill in numerous CNS disorders. Specifically, I argue that our understanding of iGluRs has reached a critical turning point to permit, for the first time, a comprehensive re-evaluation of their role in the cause of disease. I illustrate this by highlighting how defects in AMPA receptor (AMPAR) trafficking are important to fragile X mental retardation and ectopic expression of kainate receptor (KAR) synapses contributes to the pathology of temporal lobe epilepsy. Finally, I discuss how parallel advances in studies of other neurotransmitter systems may allow pharmacologists to work towards a cure for many CNS disorders rather than developing drugs to treat their symptoms.
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PMID:Ionotropic glutamate receptors & CNS disorders. 1853 42

Intellectual disability (ID) affects 1%-3% of the general population. We recently reported on a family with autosomal-recessive mental retardation with anterior maxillary protrusion and strabismus (MRAMS) syndrome. One of the reported patients with ID did not have dysmorphic features but did have temporal lobe epilepsy and psychosis. We report on the identification of a truncating mutation in the SOBP that is responsible for causing both syndromic and nonsyndromic ID in the same family. The protein encoded by the SOBP, sine oculis binding protein ortholog, is a nuclear zinc finger protein. In mice, Sobp (also known as Jxc1) is critical for patterning of the organ of Corti; one of our patients has a subclinical cochlear hearing loss but no gross cochlear abnormalities. In situ RNA expression studies in postnatal mouse brain showed strong expression in the limbic system at the time interval of active synaptogenesis. The limbic system regulates learning, memory, and affective behavior, but limbic circuitry expression of other genes mutated in ID is unusual. By comparing the protein content of the +/jc to jc/jc mice brains with the use of proteomics, we detected 24 proteins with greater than 1.5-fold differences in expression, including two interacting proteins, dynamin and pacsin1. This study shows mutated SOBP involvement in syndromic and nonsyndromic ID with psychosis in humans.
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PMID:SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system. 2103 5


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