Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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

Angelman syndrome (AS) is a severe neurodevelopmental disorder characterized by mental retardation, seizures and sleep disturbances. It results from lack of the functional maternal allele of UBE3A gene. Ube3a maternal-deficient mice (Ube3a m-/p+), animal models for AS, are impaired in hippocampal-dependent learning tasks as compared with control (Ube3a m+/p+) mice. We first examined the basal expression of immediate early genes which expression is required for synaptic plasticity and memory formation. We found that basal expression of c-fos and Arc genes is reduced in the DG of Ube3a maternal deficient mice compared to their non-transgenic littermates. We then examined whether adult hippocampal neurogenesis, which likely serves as a mechanism toward brain plasticity, is altered in these transgenic mice. Neurogenesis occurs throughout life in mammalian dentate gyrus (DG) and recent findings suggest that newborn granule cells are involved in some forms of learning and memory. Whether maternal Ube3a deletion is detrimental on hippocampal neurogenesis is unclear. Herein, we show, using the mitotic marker Ki67, the birthdating marker 5-bromo-2'-dexoyuridine (BrdU) and the marker doublecortin (DCX) to respectively label cell proliferation, cell survival or young neuron production, that the Ube3a maternal deletion does not affect the proliferation nor the survival of newborn cells in the hippocampus. In contrast, using the postmitotic neuronal marker (NeuN), we show that Ube3a maternal deletion is associated with a lower fraction of BrdU+/NeuN+ newborn neurons among the population of surviving new cells in the hippocampus. Collectively, these findings suggest that some aspects of adult neurogenesis and plasticity are affected by Ube3a deletion and may contribute to the hippocampal dysfunction observed in AS mice.
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PMID:Impaired hippocampal plasticity and altered neurogenesis in adult Ube3a maternal deficient mouse model for Angelman syndrome. 1978 83

Six submicroscopic deletions comprising chromosome band 2q23.1 in patients with severe mental retardation (MR), short stature, microcephaly and epilepsy have been reported, suggesting that haploinsufficiency of one or more genes in the 2q23.1 region might be responsible for the common phenotypic features in these patients. In this study, we report the molecular and clinical characterisation of nine new 2q23.1 deletion patients and a clinical update on two previously reported patients. All patients were mentally retarded with pronounced speech delay and additional abnormalities including short stature, seizures, microcephaly and coarse facies. The majority of cases presented with stereotypic repetitive behaviour, a disturbed sleep pattern and a broad-based gait. These features led to the initial clinical impression of Angelman, Rett or Smith-Magenis syndromes in several patients. The overlapping 2q23.1 deletion region in all 15 patients comprises only one gene, namely, MBD5. Interestingly, MBD5 is a member of the methyl CpG-binding domain protein family, which also comprises MECP2, mutated in Rett's syndrome. Another gene in the 2q23.1 region, EPC2, was deleted in 12 patients who had a broader phenotype than those with a deletion of MBD5 only. EPC2 is a member of the polycomb protein family, involved in heterochromatin formation and might be involved in causing MR. Patients with a 2q23.1 microdeletion present with a variable phenotype and the diagnosis should be considered in mentally retarded children with coarse facies, seizures, disturbed sleeping patterns and additional specific behavioural problems.
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PMID:The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. 1980 84

Holoprosencephaly (HPE) is the most common malformation of the embryonic forebrain in humans. Although HPE occurs along a continuous spectrum, it has been categorized into four types from most severe to least severe: alobar, semilobar, lobar, and middle interhemispheric (MIH) variant. Facial malformations are often associated with HPE and usually correlate with the severity of brain malformation. With the most severely affected newborns, there is a high mortality rate in the first month of life, however, with milder forms of HPE, the majority survive beyond infancy. The Carter Centers for Brain Research in Holoprosencephaly and Related Malformations have enrolled 182 living children in a prospective research study. Based on previously published reports using this database, reports from other investigators, as well as our experience and personal observations, the range of developmental, neurological, and medical problems found in children with HPE is described in this article. Virtually all children with HPE have some developmental disability and the severity correlates with the severity of the brain malformation on neuroimaging. Common medical problems include hydrocephalus, seizures, motor impairment, oromotor dysfunction with risk of poor nutrition and aspiration, chronic lung disease, gastroesophageal reflux, constipation, hypothalamic dysfunction with disturbed sleep-wake cycles and temperature dysregulation, as well as endocrine dysfunction. Diabetes insipidus in particular is found in about 70% of children with classic HPE. Recommendations for management of these problems are given based on experiences of the authors and familiarity with the literature.
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PMID:Management of children with holoprosencephaly. 2010 15

As increasing numbers of people live, work, and play at high altitudes, awareness of the neurological consequences of hypobaric hypoxic environments becomes paramount. Despite volumes of studies examining the pathophysiology of altitude sickness, the underlying mechanisms of the spectrum of altitude related illnesses is still elusive. High altitude headache, acute mountain sickness, high altitude cerebral edema and other neurological presentations including sleep disturbances and seizures at high altitude are reviewed. As our knowledge advances in the field of altitude physiology, the clinical and research techniques developed may help our understanding of hypoxic brain injury in general.
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PMID:Hypobaric hypoxic cerebral insults: the neurological consequences of going higher. 2013 Mar 56

Interactions between sleep and epilepsy have been widely documented. Sleep can modulate epileptic phenomena, and epilepsy and seizures disorganize the macro- and micro-architecture of sleep. In turn, sleep deprivation exerts a strong influence on the occurrence of seizures and interictal epileptiform discharges. Recently, sleep disturbances occurring in conjunction with epilepsy have been suggested to lead to a worsening of the quality of life for patients with epilepsy. In addition, data from animal models clarify many gaps in this relationship. In this brief review, we present an outline of the interactions between sleep and epilepsy based on a thorough review of the existing literature.
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PMID:The relationship between sleep and epilepsy: evidence from clinical trials and animal models. 2083 25

The comorbidity of Attention Deficit Hyperactivity Disorder (ADHD) with sleep disorders has been extensively studied. In particular, Restless Legs Syndrome (RLS) appears to be consistently more frequent in children with ADHD. Several papers also draw attention to the frequent occurrence of epileptic seizures and EEG abnormalities in ADHD children. We performed a preliminary open label study to evaluate the efficacy of Levetiracetam (LEV) to ameliorate the sleep pattern and reduce RLS symptoms in children with a complex comorbidity between Attention Deficit Hyperactivity Disorder (ADHD), RLS and focal interictal epileptic discharges (IEDs) on EEG. We recruited seven children (all males, aged between 5 and 12years) who fulfilled the following criteria: ADHD diagnosis combined subtype; presence of idiopathic RLS; and presence of focal IEDs on EEG. All children were given LEV at a starting dose of approximately 10-20mg/kg/day followed by 10mg/kg/day incrementing at 1-week intervals up to 50-60mg/kg/day given in two separate doses. At a 3 and 6month follow-up, all children showed significant improvement (p<0.05) in global International RLS Rating Scale (IRLS-RS). Parents' reports revealed improved sleep quality with fewer awakenings and restorative sleep in their children. LEV was well tolerated and no major side effects were reported. With an accessory report we observed the reduction of epileptiform EEG activity during sleep. In most patients (6 on 7) the discharges completely disappeared; in the last patient epileptiform EEG activity was significantly reduced. These children may represent a subgroup of ADHD patients in which the hyperactivity and attention difficulties might be aggravated by sleep disturbances and by IEDs. LEV could represent a therapeutic option for these comorbid conditions.
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PMID:Restless Leg Syndrome in ADHD children: levetiracetam as a reasonable therapeutic option. 2095 Sep 71

Septo-optic dysplasia is a rare disorder characterized by optic nerve hypoplasia; midline developmental defects including agenesis of the septum pellucidum, thinning or absence of the corpus callosum, or both; and deficiencies of pituitary hormones. The majority of cases are sporadic but rare familial cases occur. The clinical manifestations include poor visual function in one or both eyes, developmental delay, seizures, sleep disturbances, and precocious puberty. A life-long multidisciplinary approach is crucial in the management of these patients to optimize their growth and development and to help them lead as normal lives as possible.
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PMID:Septo-optic dysplasia. 2103 40

An adult cohort with tuberous sclerosis complex was investigated for the prevalence of sleep disturbances and the relationship with seizure variables, medication, and psychological functioning. Information on 35 adults was gathered using four questionnaires: Epworth Sleepiness Scale (ESS), Sleep and Epilepsy Questionnaire (SEQ), Sleep Diagnosis List (SDL), and Adult Self-Report Scale (ASR). In addition, clinical, genetic and electrophysiological data were collected. Of 35 respondents, 25 had a history of epilepsy. A subjective sleep disorder was found in 31% of the cohort. Insomnia scores showed a significant positive correlation with obstructive sleep apnea syndrome and restless legs syndrome scores. Significant correlations were found between daytime sleepiness and scores on depression, antisocial behavior, and use of mental health medication. A subgroup using antiepileptic medication showed high correlations between daytime sleepiness, attention deficits, and anxiety scores.
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PMID:Characterizing sleep disorders of adults with tuberous sclerosis complex: a questionnaire-based study and review. 2113 Jun 96

A variety of features of autism can be simulated in rodents, including the core behavioral hallmarks of stereotyped and repetitive behaviors, and deficits in social interaction and communication. Other behaviors frequently found in autism spectrum disorders (ASDs) such as neophobia, enhanced anxiety, abnormal pain sensitivity and eye blink conditioning, disturbed sleep patterns, seizures, and deficits in sensorimotor gating are also present in some of the animal models. Neuropathology and some characteristic neurochemical changes that are frequently seen in autism, and alterations in the immune status in the brain and periphery are also found in some of the models. Several known environmental risk factors for autism have been successfully established in rodents, including maternal infection and maternal valproate administration. Also under investigation are a number of mouse models based on genetic variants associated with autism or on syndromic disorders with autistic features. This review briefly summarizes recent developments in this field, highlighting models with face and/or construct validity, and noting the potential for investigation of pathogenesis, and early progress toward clinical testing of potential therapeutics. Wherever possible, reference is made to reviews rather than to primary articles.
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PMID:Modeling autistic features in animals. 2128 42


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