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)

OBJECTIVES: To present the case of a patient with an epidermal nevus since birth and its relationship to neurologic signs and symptoms, emphasizing the importance of cutaneous manifestations as early markers of syndromes involving the Central Nervous System. METHODS: Clinical, radiological and histopathological data were analyzed. RESULTS: We report the case of a boy with an erythematous lesion on the neck and cheek since birth. At 9 months the lesion was velvety and slightly brown in color, with associated hemihypertrophy of the face. After 3 months he was hospitalized for having seizures. Computerized tomography of the brain disclosed hemimegalencephaly ipsilateral to the cutaneous lesions. DISCUSSION: The cutaneous findings can be an indicator of neurologic disease since both tissues have the same embryological origin: the neural crest. Thus, the Pediatrician must recognize these cutaneous signs which appear early in life and characterize some of the Neurocutaneous Syndromes so that a proper diagnosis and follow-up can be made.
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PMID:[Epidermal nevus syndrome - a case report] 1468 32

A 5-month-old infant with Shaken Baby Syndrome is reported. This form of physical child abuse is often overlooked. It should be suspected in infant who present with drowsiness, coma, seizures or apnea.
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PMID:Shaken baby syndrome. 1506 19

Epilepsy is one of the common diseases in neurology. Its correct diagnosis and classification are important for choosing the most appropriate treatment. Currently, Classification of Epileptic Seizures in 1981 and Classification of Epilepsies and Epileptic Syndromes in 1989, both were proposed by International League Against Epilepsy (ILAE), are available. As for Classification of Epilepsies and Epileptic Syndromes, two divisions continue to be widely used to shape the major classes: The first separates epilepsies with generalized seizures (generalized epilepsy) from epilepsies with partial or focal seizures (localization-related, partial or focal epilepsies). The other separates epilepsies of known etiology (symptomatic or secondary epilepsies) from those that are idiopathic (primary) and those that are cryptogenic. In 2001, ILAE Task Force proposed a new classification. However, its daily use has yet been limited. Simple and useful classification will lead to better understanding and more appropriate management of epilepsy.
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PMID:[International classification of epileptic seizures, epilepsies, and epileptic syndromes]. 1565 46

In recent years, numerous publications have reported localization-related epilepsy with onset during early infancy, idiopathic etiology and favourable outcome. In 1963, Fukuyama reported cases occurring in the first 2 years of life characterized by partial seizures, absence of etiologic factors and benign outcome. Watanabe studied the localization and semiology of seizures. Later Vigevano and coworkers directed attention to the presence of cases with a family history of convulsions with benign outcome during infancy, with autosomal dominant inheritance, suggesting the term 'benign infantile familial convulsions' (BIFC). Similar cases have been described by several authors confirming that this is a new syndrome. In the last ILAE proposal of Classification of Epilepsy Syndromes this entity is called benign familial infantile seizures. Benign infantile seizures are divided now into familial and non-familial forms, although the two forms can overlap. Genetic studies led to the identification of a marker on chromosome 19. This was not confirmed by later studies, and genetic heterogeneity was hypothesized. Recently Malacarne studying eight Italian families with BIFC mapped a novel locus on chromosome 2. In 1997, Szepetowski described the association between BIFC and a later occurrence of paroxysmal choreoathetosis. Following the identification of a specific marker on chromosome 16, this entity constitutes a variant of the familial forms, called infantile convulsions and choreoathetosis. The age at onset, the semeiology of the seizures and the genetic data distinguish the benign familial infantile seizures from the benign familial neonatal seizures. Recent data suggested that this type of epilepsy would be due to a channellopathy.
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PMID:Benign familial infantile seizures. 1573 97

Rufinamide [E 2080, CGP 33101, RUF 331, Inovelon, Xilep] is the lead compound in a series of five-substituted phenylalkyl-3- carbamoyl-4H-1,2,4-triazoles with anticonvulsant activity that was discovered by Novartis AG. Although the precise mechanism of action for rufinamide is unknown, it is known that it limits the firing of sodium-dependent action potentials in neurons, hinting at a membrane-stabilising effect. Rufinamide is under regulatory review in Europe for epilepsy, and phase III trials in the same indication are underway with Eisai in the US. In February 2004, Eisai Co. Ltd announced that it had signed an in-licensing agreement with Novartis Pharma AG for the exclusive worldwide rights to manufacture, develop and market rufinamide for the treatment of epilepsy. Eisai submitted an MAA for rufinamide (Inovelon) as an adjunct therapy of seizures associated with Lennox-Gastaut Syndrome to the European Medicines Agency through the centralised procedure in March 2005. The drug also received orphan drug designation from the European commission in October 2004 for this indication. Eisai also plans to file for regulatory approval in the US. Rufinamide has demonstrated statistically significant efficacy as an adjunctive therapy in adult patients with epilepsy and in patients with seizures associated with Lennox-Gastaut syndrome. Novartis stated in June 2001, prior to the licensing agreement with Eisai, that it had stopped development of rufinamide in the US, Japan and Europe for neuropathic pain (at phase II) and epilepsy (at phase III).
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PMID:Rufinamide: CGP 33101, E 2080, RUF 331, Xilep. 1599 87

Childhood is a time of considerable importance for the onset of epilepsy syndromes. Selection of an appropriate antiepileptic drug (AED) is central to its successful management. Different AEDs have various effects depending on whether seizures are focal or generalized and this is often used as a rational basis for drug selection. Syndromes, in which features of both focal and generalized seizures are associated in a single patient, present particular problems for pediatric prescribing and epilepsy management since an AED suitable for one seizure type may be ineffective for, or even aggravate, another seizure type. This review discusses the syndromes with different seizures types, focal and generalized, examines the treatment options that may be useful in each case and highlights the potential of some of the newer AEDs in managing these difficult syndromes.
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PMID:Childhood epilepsy syndromes with both focal and generalized seizures. 1623 10

Early in these proceedings, the origin of the three terms in the title, "idiopathic generalized epilepsy," is discussed with respect to their significance over time, and typical misunderstandings. In the mid-20th century, a rather chaotic use of a multitude of often loosely defined terms had developed, which increasingly became an obstacle to a meaningful international discussion. The International League against Epilepsy (ILAE) took the initiative to develop an internationally accepted terminology with a classification system consisting of a classification of seizures (1981) and a classification of syndromes (1989). The Idiopathic Generalized Epilepsies are one of its four major groups emerging from a double dichotomy of generalized versus localization-related and idiopathic versus symptomatic. The inclusion of biologic aspects such as syndrome-specific ages of onset ("age-related syndromes") or syndrome-specific relations of seizure occurrence to the sleep-wake cycle ("Epilepsy with Grand Mal on Awaking") meant that the syndrome classification merged the more biological views of the German school with the more neurophysiological ones of the French. Apart from establishing a common international language concerning epilepsy, the International Classification of Epilepsies and Epileptic Syndromes became an important stimulator of research, especially concerning the idiopathic epilepsies. In particular, genetic and functional imaging investigations aim at a better understanding of these conditions. It is now understood that most idiopathic syndromes have a--sometimes complex--genetic background, but we are also becoming aware of the inappropriateness of the time-honored term "generalized" and part of our dichotomies. Both localization-related and "generalized" idiopathic epilepsies seem to share a principle of ictogenesis based on functional anatomic pathogenic networks, and we seem to move toward understanding them as functional system disorders of the brain.
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PMID:Historical aspects of idiopathic generalized epilepsies. 1630 70

Zonisamide (Zonegran), a novel antiepileptic drug (AED) approved in Europe for the adjunctive treatment of refractory partial seizures in adults, has undergone extensive evaluation in pre- and post-marketing double-blind and open-label studies in Japan (where zonisamide is used widely to treat partial and generalised seizures in adults and children). These data indicate that the clinical benefit of zonisamide extends across a range of seizure types and patient ages. In an analysis based on a mixture of controlled and open studies in adults and children with partial seizures, 51-57% responded to zonisamide treatment (achieving >or=50% reduction in baseline seizure frequency). Efficacy extends across a range of generalised seizures and 22-66% of adults and children experiencing tonic-clonic, tonic, clonic, myoclonic or absence seizures responded to treatment. Even greater responder rates have been reported when zonisamide was used as monotherapy for partial seizures and generalised seizures in patients refractory to other AEDs or with newly diagnosed epilepsy. Zonisamide is also efficacious in paediatric epilepsy syndromes, including Lennox-Gastaut Syndrome, West Syndrome and Ohtahara Syndrome. Across the spectrum of epilepsy syndromes studied, zonisamide is well-tolerated with a low incidence of adverse events, which are generally mild and CNS-related. These data indicate that zonisamide represents a valuable broad-spectrum option for the treatment of epilepsy.
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PMID:Zonisamide in the management of epilepsy--Japanese experience. 1632 7

The treatment of Lennox-Gastaut Syndrome (LGS) has been improved with the introduction of the new anti-epileptic drugs: lamotrigine and topiramate, the employment of a ketogenic diet, and the availability of vagal nerve stimulation. It is difficult to provide recommendations for the treatment of LGS, in the absence of comparative trials. However, suggestions can be made on the basis of the best evidence available. Treatment should commence with valproate and continue with lamotrigine or topiramate. If seizure control is not sufficient, felbamate, a ketogenic diet, and vagal nerve stimulation are recommended. A partial callosotomy may be performed for the treatment of frequent drop attacks. Other anti-epileptic drugs may be used after a risks-benefits evaluation.
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PMID:[Therapies for Lennox-Gastaut syndrome]. 1639 89

Scores of monogenic Mendelian ion channel diseases serve to anchor the pathophysiology of the channelopathies, but there are also now clear examples of environmental, pharmacogenetic, and acquired channelopathy mechanisms. The cardinal feature of heritable ion channel disease is a periodic disturbance of rhythmic function in constitutionally hyperexcitable tissue. While the complexity of neuroanatomy obscures functional analysis of mutations causing monogenic seizure, ataxia, or migraine syndromes, extrapolation from the cardiac (Long QT [LQT]) and muscle (Periodic Paralysis) channelopathy syndromes provides a simplified predictive framework of molecular pathology: electrically stabilizing potassium ion (K(+)) and chloride ion (Cl(-)) channels, likely having lesions that diminish their current, and excitatory Na(+) channels, likely having gain-of-function lesions. The voltage-gated calcium channel gene family that contains CACNA1C, the newest LQT locus, causing Timothy Syndrome with a phenotype including autism, has proven to be particularly informative for its members' ability to tie the various central nervous system (CNS) phenotypes together in an interpretable fashion, now including direct extension to the classically multigenic neuropsychiatric phenotypes. Features of a promising ion channel candidate gene arise from its broad locus, gene family, nature of alleles, physiology and pharmacology, tissue expression profile, and phenotype in model organisms. KCNN3 is explored as a paradigm to consider.
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PMID:Ion channel functional candidate genes in multigenic neuropsychiatric disease. 1649 76


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