Search Results
Results 201 - 250 of 862
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El Hajj Taghrid - - 2009
We describe a patient with Kleine-Levin syndrome who was initially misdiagnosed as having epilepsy and who achieved complete remission on carbamazepine treatment. A drug effect was established when symptoms recurred after carbamazepine taper and disappeared after reintroduction of the drug. Carbamazepine, a safer drug than lithium, can be a highly ...
Kuchukhidze Giorgi - - 2009
Abnormalities of deep cerebellar nuclei in Joubert syndrome have been previously reported only in rare autopsy cases. Epilepsy in association with Joubert syndrome is also rarely reported. In two new cases of patients with Joubert syndrome, bilateral hypoplasia of deep cerebellar nuclei was detected in vivo by magnetic resonance imaging. ...
Steinlein Ortrud K - - 2009
The combination of aphasia and epileptic seizures is characteristic for Landau-Kleffner syndrome and childhood disintegrative disorder. These disorders affect young children with previously normal psychomotor development, causing profound regression with loss of receptive and expressive language capabilities. The etiologies of these childhood epilepsy-aphasia syndromes are largely unknown, and the long-term ...
Hirano Yoshiko - - 2009
Prognostic factors for frequent seizure recurrences were studied in patients with Panayiotopoulos syndrome. The subjects were 79 children fulfilling the criteria of Panayiotopoulos syndrome who were monitored for longer than 2 years. Medical records and electroencephalograms were analyzed retrospectively. The total number of seizures in each patient at the final ...
Korff Christian M - - 2009
Benign myoclonic epilepsy of infancy is recognized as a generalized and idiopathic epilepsy by the International League Against Epilepsy. Unprovoked and reflex seizures have been reported in these patients. We describe a child diagnosed with benign myoclonic epilepsy of infancy, whose strictly unilateral and localized reflex myoclonias broaden the clinical ...
Saadeldin Imad Yassin - - 2010
PURPOSE: Benign infantile seizures [BIS], familial and non-familial, represent a benign, age-related idiopathic syndrome of infancy. The aim of the current paper is to document the presence of the syndrome in Saudi Arabia and in Arab populations and to discuss the characteristic electroclinical features and the benign nature of this ...
Thibert Ronald L - - 2009
Angelman syndrome (AS) commonly presents with epilepsy (>80%). The goal of this study was to examine the natural history and various treatments of epilepsy in AS in a large population. A detailed electronic survey containing comprehensive questions regarding epilepsy in AS was conducted through the Angelman Syndrome Foundation. There were ...
Coppola Giangennaro - - 2009
The syndrome of malignant migrating partial seizures in infancy was first reported in 1995, and is now included among the childhood epilepsy syndromes in development in the proposal of the revision of the International League Against Epilepsy (ILAE) classification of the epilepsies and epilepsy syndromes. The main clinical features are ...
Striano Salvatore - - 2009
Hypothalamic hamartoma (HH) is the pathologic hallmark of a spectrum of epileptic conditions, ranging from a mild form of epilepsy, whose seizures are an urge to laugh without cognitive defects, to the fully developed syndrome of early onset gelastic seizures (GS) associated with precocious puberty and the evolution to a ...
Capovilla Giuseppe - - 2009
In its first description (1989), Panayiotopoulos syndrome was defined as an idiopathic epilepsy syndrome with an excellent prognosis, characterized by a clinical ictal triad of nocturnal seizures, tonic deviation of the eyes, and vomiting. The electroencephalographic and clinical features of this condition were highly suggestive of occipital lobe involvement. Subsequently, ...
Striano Pasquale - - 2009
Work on the classification of epileptic syndromes is ongoing, and many syndromes are still under discussion. In particular, special difficulty still persists in correctly classifying epilepsies with myoclonic seizures. The existence of special familial epileptic syndromes primarily showing myoclonic features has been recently suggested on the basis of a clear ...
Elia Maurizio - - 2009
Myoclonic status in nonprogressive encephalopathies (MSNE) is an epileptic syndrome in development, characterized by the early onset of continuous diffuse epileptiform abnormalities, accompanied by positive and/or negative phenomena correlated with transient and recurring motor, cognitive, or behavioral disturbances. Outcome of MSNE is poor and may determine progressive neurologic deterioration. MSNE ...
Gambardella Antonio - - 2009
Familial mesial temporal lobe epilepsy (FMTLE) was first described as a benign syndrome with prominent psychic and autonomic seizures and no association with hippocampal sclerosis (HS) or febrile seizures (FS). Better definition of the syndrome allowed identification of more heterogeneous phenotypes with mild to severe epileptic disorders, and a variable ...
Stafstrom Carl E - - 2009
Infantile spasms is a developmental epilepsy syndrome with unique clinical and EEG features, a specific pattern of pharmacological responsiveness, and poor outcome in terms of cognition and epilepsy. Despite the devastating nature of infantile spasms, little is known about its pathogenesis. Until recently, there has been no animal model available ...
Striano Salvatore - - 2009
Eyelid myoclonia with absences (EMA), or Jeavons syndrome, is a generalized epileptic condition clinically characterized by eyelid myoclonia (EM) with or without absences, eye closure-induced electroencephalography (EEG) paroxysms, and photosensitivity; in addition, rare tonic-clonic seizures may also occur. Although first described in 1977 and widely reported by several authors within ...
Cortez Miguel A - - 2009
Infantile spasms is a catastrophic childhood seizure disorder for which few animal models exist. Children with Down syndrome are highly susceptible to infantile spasms. The Ts65Dn mouse is a valid model for Down syndrome; therefore, we tested the hypothesis that the Ts65Dn mouse represents a substrate for an animal model ...
Beghi Ettore - - 2009
An epilepsy syndrome is a disorder characterized by a cluster of symptoms and signs customarily occurring in combination. A syndromic approach to the epilepsies would be of practical value for diagnostic, prognostic, and therapeutic purposes. However, despite considerable efforts by leaders in the field of epileptology and the improved knowledge ...
Rubboli Guido - - 2009
The classification of idiopathic generalized epilepsies (IGEs) is still controversial, with special reference to absence epilepsy syndromes. Strict, well-defined criteria for syndromic definitions are necessary to delineate homogeneous conditions; however, this approach may leave a considerable group of patients unclassified, leading to the effort to categorize them in possible distinct ...
Michael Michael - - 2010
Panayiotopoulos syndrome is a common multifocal autonomic childhood epileptic disorder with significant clinical, pathophysiological and management implications. It affects otherwise normal children with onset at around 3-6 years. It is characterized by seizures, often prolonged, with predominantly autonomic symptoms and mainly ictal vomiting. EEG shows shifting and/or multiple foci, often ...
Smigielska-Kuzia Joanna - - 2009
Epilepsy is rarely considered as a major component of Down syndrome. We evaluated the prevalence of epileptic seizures in 252 (97 girls and 155 boys) children and adolescents with Down syndrome evaluated at Department of Pediatric Neurology between 1994 and 2007. Results showed that 15 (6%) patients had epileptic seizures: ...
Saneto Russell P - - 2009
Lennox-Gaustaut syndrome is an electroclinical epilepsy syndrome characterized by the triad of electroencephalogram showing diffuse slow spike-and-wave discharges and paroxysmal fast activity, multiple intractable seizure types, and cognitive impairment. The intractability to seizure medications and cognitive impairment gives rise to eventual institutionalized patient care. Only a small subset of seizure ...
Brockmann Knut - - 2009
Transport of glucose from the bloodstream across the blood-brain barrier to the central nervous system is facilitated by glucose transport protein type 1 (GLUT1), the first member of the solute carrier family 2 (SLC2). Heterozygous mutations in the GLUT1/SLC2A1 gene, occurring de novo or inherited as an autosomal dominant trait, ...
Scorza F A - - 2009
Epilepsy is the most common serious neurological disorder and approximately 1% of the population worldwide has epilepsy. Moreover, sudden unexpected death in epilepsy (SUDEP) is the most important direct epilepsy-related cause of death. Information concerning risk factors for SUDEP is conflicting, but potential risk factors include: young age, early onset ...
Reynolds Edward H - - 2009
This article reviews the history of clinical concepts of epilepsy and its classification, especially in the last 100 years. Throughout its recorded history of 3 to 4 millennia, epilepsy has always been defined by its most dramatic symptoms, for example, falling, motor activity or loss of consciousness, but separation from ...
Vrielynck Pascal - - 2009
Sudden epileptic falls are frequently reported in continuous spike-waves during slow sleep (CSWS) syndrome. Inhibitory seizures are usually considered as the underlying mechanism. However, published polygraphic recordings are rare. We report the case of a 22 month-old boy suffering from a symptomatic CSWS syndrome associated with a perinatal stroke involving ...
Kwon Eun Jin - - 2009
A 58-year-old female receiving gemcitabine and cisplatin chemotherapy for stage IV gallbladder cancer developed the clinicoradiologic syndrome, posterior reversible encephalopathy syndrome (PRES). Just before the 4th gemcitabine chemotherapy cycle, she was admitted to the hospital with complaints of headache, dizziness, and generalized tonic-clonic seizures. A MRI was performed on the ...
Sadleir Lynette Grant LG Department of Paediatrics, Wellington School of Medicine, University of Otago, Wellington, New Zealand. - - 2009
Factors influencing the electroencephalography (EEG) features of absence seizures in newly presenting children with idiopathic generalized epilepsy (IGE) have not been rigorously studied. We examined how specific factors such as state, provocation, age, and epilepsy syndrome affect the EEG features of absence seizures. Children with untreated absence seizures were studied ...
Ozkara Ciğdem - - 2009
Panayiotopoulos syndrome is a common benign epilepsy affecting otherwise healthy children that present with autonomic seizures, in which nausea, retching, and vomiting are particularly common and prominent. Because of the unusual ictal symptoms and lengthy manifestations, misdiagnosis is a common major problem. We describe a young girl with intractable and ...
Deprez Liesbet - - 2009
BACKGROUND: Incidence rates of epilepsy in children are highest during the first year of life. Most frequently, epilepsy results from a metabolic or structural defect in the brain. However, some infants have clearly delineated epilepsy syndromes for which no underlying etiology can be identified except for a genetic predisposition. METHODS: ...
Helbig Ingo - - 2009
We identified 15q13.3 microdeletions encompassing the CHRNA7 gene in 12 of 1,223 individuals with idiopathic generalized epilepsy (IGE), which were not detected in 3,699 controls (joint P = 5.32 x 10(-8)). Most deletion carriers showed common IGE syndromes without other features previously associated with 15q13.3 microdeletions, such as intellectual disability, ...
Whittaker R G - - 2009
The hallmarks of the myoclonic epilepsy with ragged red fibers (MERRF) syndrome are myoclonic epilepsy, ataxia and ragged red fibres detected on muscle biopsy. We present a case of a 25-year-old male who first presented to his general practitioner at the age of 22 years with myoclonic jerks affecting the ...
Stafstrom Carl E - - 2009
This review summarizes the treatment of Lennox-Gastaut syndrome, an intractable epileptic encephalopathy of early childhood. In particular, the review focuses on rufinamide, a recently released anticonvulsant medication with reported effectiveness in this epilepsy syndrome. A systematic literature search (PubMed) was performed to review the existing literature pertaining to the treatment ...
Hancock Eleanor C - - 2009
The Lennox-Gastaut syndrome is an age-specific disorder, characterised by epileptic seizures, a characteristic electroencephalogram (EEG), psychomotor delay and behaviour disorders. It occurs more frequently in males and onset is usually before the age of eight, with a peak between three and five years. Late cases occurring in adolescence and early ...
Iannetti Paola - - 2009
Panayiotopoulos syndrome is a common and benign childhood autonomic epilepsy of debated localization. Although officially considered as occipital epilepsy, this is most likely of multifocal origin. Ictal electroencephalography is the gold standard of seizure localization, but in Panayiotopoulos syndrome, because patients have single or rare seizures, only 7 cases with ...
Hirano Yoshiko - - 2009
OBJECTIVE: We conducted a video-polygraphic study of myoclonic seizures (MS) in different epileptic syndromes to clarify semiologic and electroencephalography (EEG) differences among them. SUBJECTS AND METHODS: The subjects were 26 children with MS, including benign myoclonic epilepsy in infants (BME) in 10, severe myoclonic epilepsy in infants (SME) in 6, ...
Tuchman Roberto - - 2009
The autisms and epilepsies are heterogeneous disorders that have diverse etiologies and pathologies. The severity of impairment and of symptoms associated with autism or with particular epilepsy syndromes reflects focal or global, structurally abnormal or dysfunctional neuronal networks. The complex relationship between autism and epilepsy, as reflected in the autism-epilepsy ...
Narain Nigam Prakash - - 2008
Dyke Davidoff Masson syndrome (DDMS) is characterized by seizures, facial asymmetry, contralateral hemiplegia and mental retardation. The characteristic radiologic features are cerebral hemiatrophy with homolateral hypertrophy of the skull and sinuses. We report a case of DDMS in an 18-month-old girl who presented with right sided focal seizures, hemiparesis of ...
Hartman Adam L - - 2008
The ketogenic diet (KD) has been used successfully in a variety of epilepsy syndromes. This includes syndromes with multiple etiologies, including Lennox-Gastaut syndrome and infantile spasms; developmental syndromes of unknown etiology, such as Landau-Kleffner syndrome; and idiopathic epilepsies, such as myoclonic-astatic (Doose) epilepsy. It also includes syndromes where genetics play ...
Yang Zhixian - - 2008
The authors report a patient with Lennox-Gastaut syndrome who was a fraternal twin. The twins encountered myoclonic seizures at the age of 4 years, but the seizures in the other patient were controlled very quickly without intellectual development damage. With the disease evolving, other characteristic seizures of Lennox-Gastaut syndrome appeared ...
Jocic-Jakubi Bosanka - - 2008
This article reports on a female infant with Aicardi syndrome presenting with malignant migrating partial seizures from her first day of life. Initially, unilateral tonic seizures were seen with contralateral ictal electroencephalogram findings. Typically, these tonic seizures were accompanied by head and eye deviation and were followed by a tonic ...
Chou Chao-Liang - - 2008
Klüver-Bucy (KBS) syndrome is a rare and complicated neurobehavioral syndrome in humans resulting from damage of bilateral anterior temporal portion, especially the amygdala. It can be seen in association with a variety of etiologies. Stroke is a rarely reported. Here we present a 50-year-old right handed man who developed persistent ...
Addas Bassam - - 2008
Gelastic epilepsy (GE) associated with hypothalamic hamartomas (HHs) is now a well-characterized clinical syndrome consisting of gelastic seizures starting in infancy, medically refractory seizures with or without the development of multiple seizure types, and behavioral and cognitive decline. It has been postulated that the development of the HH-GE syndrome is ...
Durá-Travé Teodoro - - 2008
All incident cases of children living in Navarre, Spain, younger than 15 years of age with newly diagnosed epilepsy (2002-2005) were registered in a prospective study, with epidemiologic and clinical data and complementary study results collected. Based on International League Against Epilepsy criteria, 191 patients were diagnosed as having epilepsy. ...
Taylor Isabella - - 2008
The early and late benign occipital epilepsies of childhood (BOEC) are described as two discrete electro-clinical syndromes, eponymously known as Panayiotopoulos and Gastaut syndromes. Our aim was to explore the clinical features, classification and clinical genetics of these syndromes using twin and multiplex family studies to determine whether they are ...
Koutroumanidis Michael - - 2008
PURPOSE: To define the relationship between two syndromes of idiopathic generalized epilepsy (IGE) with apparently similar phenotypes: The form with generalized tonic-clonic seizures only (IGE-GTCS) and that with phantom absences (IGE-PA). METHODS: We compared the electroclinical features of 33 consecutive patients with GTCS and generalized spike wave (GSW); 18 had ...
Sadleir Lynette G LG Department of Pediatrics, Wellington School of Medicine, University of Otago, Wellington, New Zealand. - - 2008
The clinical features of absence seizures in idiopathic generalized epilepsy have been held to be syndrome-specific. This hypothesis is central to many aspects of epilepsy research yet has not been critically assessed. We examined whether specific factors such as epilepsy syndrome, age, and state determine the features of absence seizures. ...
Nabbout Rima - - 2008
A puzzling EEG pattern combining frontal slow bi-tri spikes followed or not by slow waves when awake and activated by sleep with 5-10s discharges of 8-9Hz spikes in a minority of adolescents with Dravet syndrome (DS) was recorded in the context of stable seizure and cognitive status, and unchanged antiepileptic ...
Gerstner Thorsten - - 2008
Valproic acid (VPA) is considered to be a drug of first choice for the therapy of generalized and focal epilepsies, including special epileptic syndromes. The drug is usually well tolerated, rare serious complications may occur in some patients, including hemorrhagic pancreatitis, coagulapathies, bone marrow suppression, VPA-induced hepatotoxicity and encephalopathy. We ...
Rosen Noah - - 2008
We report on 2 patients who have a mitochondrial myopathy, encephalopathy, lactic acidosis, and recurrent cerebral insults that resemble strokes (MELAS). These 2, and 9 other, reported patients share the following features: ragged red fibers evident on muscle biopsy, normal early development, short stature, seizures, and hemiparesis, hemianopia, or cortical ...
Nabbout Rima - - 2008
The aim of this article is to review new epilepsy syndromes, acquire a new understanding of older ones and emphasize the impact of this concept on basic research regarding aetiology and treatment. In addition to those included in the classification of the International League Against Epilepsy, new epilepsy syndromes comprise ...
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