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Query: UMLS:C0014547 (focal epilepsy)
 1,627 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In recent years, a differentiation has been made between two syndromes that are characterized by brief abnormal paroxysmal movements occurring principally at night: 1, hypnogenic paroxysmal dystonia (HPD), sometimes considered a particular form of dystonia similar to paroxysmal kinesigenic choreoathetosis, and 2, mesiofrontal epilepsy. Whether HPD is a distinct syndrome is not clear. Twenty-three patients, 11 men and 12 women, were hospitalized between 1985 and 1989 for examination of this type of abnormal paroxysmal movements (APM) occurring at night. In order to clarify the physiopathology of these abnormal nocturnal movement as focal epilepsy or a particular form of dystonia, we analyzed the personal and familial antecedents of all 23 patients, the polygraphic records during waking and sleep periods, and the results of neuroradiological examinations. Four patients were examined by positron emission tomography (PET) using i8F deoxyglucose. Symptoms first appeared between 3 and 28 years of age (M, 10.1) and developed over 1 to 20 years (M, 10.1). APM clearly occurred more commonly (greater than 90%) during sleep, usually during phases of slow-wave sleep. The sleeping patient opened his eyes and the motor signs then variously associated affective facial expression; axial postural modifications; tonic, dystonic or choreic postural movements of the limbs; pedalling; automatisms; disordered agitation and vocalization. The seizure was abruptly interrupted after 10 to 60 seconds. There was usually no postictal confusion. Thirteen patients clearly had clear epileptic antecedents: in 9, generalized tonic-clonic seizures; in 4, focal epileptic status. During nocturnal polygraphic recording, 6 patients presented a generalized seizure following a period of APM.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Postures and abnormal paroxysmal movements during sleep: hypnogenic paroxysmal dystonia or partial epilepsy?]. 190 68

Benign epilepsies during infancy are a wide topic, which needs both clinical and nosological clarifications. Already in 1963 Fukuyama reported patients with seizures during infancy with a benign outcome. In the late 80s and early 90s, Watanabe reported series of infants with complex partial seizures or partial seizures with secondary generalization, with a normal development before onset and a benign outcome. In the same years Vigevano focused on familial cases: he described several families with seizures with onset around the 6-month of age, and autosomal dominant mode of inheritance. To define this condition, he coined the term "benign familial infantile seizures" (BFIS). Afterwards, studying families with this phenotype, loci on chromosomes 19, 16 and 2 responsible for BFIS were detected. Similar loci were found in families affected by BFIS and subsequent choreoathetosis, and BFIS associated with familial hemiplegic migraine. In most recent years a new form of benign epilepsy has been proposed, with an intermediate onset between the neonatal and infantile age, which was defined with the term benign familial neonatal-infantile seizures (BFNIS). This condition could have some clinical and genetic features overlapping with BFIS. Seizures with a benign outcome have been reported also in infants during episode of mild gastroenteritis (BIS with MG) frequently with positive Rotavirus antigen. Lastly, sleep EEG abnormalities have been reported in children with a peculiar form of epilepsy by Capovilla, who defined this condition as benign infantile focal epilepsy with midline spikes and waves during sleep (BIMSE). Some of these entities have been included in the last classification proposed by the ILAE and have been differentiated in familial and non-familial forms. The aim of this review is to describe these entities, discuss their nosological aspects, pointing out the similarities and differences with benign neonatal seizures and benign focal epilepsies appearing later in life such as early-onset benign occipital seizure susceptibility syndrome (EBOSS), or benign epilepsy of childhood with centro-temporal spikes (BECTS).
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PMID:The spectrum of benign infantile seizures. 1683 67

This paper documents the case of a female Japanese patient with infantile focal epilepsy, which was different from benign infantile seizures, and a family history of infantile convulsion and paroxysmal choreoathetosis. The patient developed partial seizures (e.g., psychomotor arrest) at age 14 months. At the time of onset, interictal electroencephalography (EEG) showed bilateral parietotemporal spikes, but the results of neurologic examination and brain magnetic resonance imaging were normal. Her seizures were well controlled with carbamazepine, and she had a normal developmental outcome. EEG abnormalities, however, persisted for more than 6 years, and the spikes moved transiently to the occipital area and began to resemble the rolandic spikes recognized in benign childhood epilepsy. Her father had paroxysmal kinesigenic dyskinesia, with an onset age of 6 years, and her youngest sister had typical benign infantile seizures. Genetic analysis demonstrated that all affected members had a heterozygous mutation of c.649_650insC in the proline-rich transmembrane protein-2 (PRRT2) gene. This case indicates that the phenotypic spectrum of infantile seizures or epilepsy with PRRT2-related pathology may be larger than previously expected, and that genetic investigation of the effect of PRRT2 mutations on idiopathic seizures or epilepsy in childhood may help elucidate the pathological backgrounds of benign childhood epilepsy.
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PMID:Girl with a PRRT2 mutation and infantile focal epilepsy with bilateral spikes. 2376 7

The glucose transporter type 1 (Glut1) is the most important energy carrier of the brain across the blood-brain barrier. In the early nineties, the first genetic defect of Glut1 was described and known as the Glut1 deficiency syndrome (Glut1-DS). It is characterized by early infantile seizures, developmental delay, microcephaly, and ataxia. Recently, milder variants have also been described. The clinical picture of Glut1 defects and the understanding of the pathophysiology of this disease have significantly grown. A special form of transient movement disorders, the paroxysmal exertion-induced dyskinesia (PED), absence epilepsies particularly with an early onset absence epilepsy (EOAE) and childhood absence epilepsy (CAE), myoclonic astatic epilepsy (MAE), episodic choreoathetosis and spasticity (CSE), and focal epilepsy can be based on a Glut1 defect. Despite the rarity of these diseases, the Glut1 syndromes are of high clinical interest since a very effective therapy, the ketogenic diet, can improve or reverse symptoms especially if it is started as early as possible. The present article summarizes the clinical features of Glut1 syndromes and discusses the underlying genetic mutations, including the available data on functional tests as well as the genotype-phenotype correlations. This article is part of the Special Issue "Individualized Epilepsy Management: Medicines, Surgery and Beyond".
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PMID:The glucose transporter type 1 (Glut1) syndromes. 3007 47