Introduction: The landscape of antiepileptic drugs is constantly evolving with new compounds being released onto the market on a regular basis. Most new agents are, at least initially, approved for use as adjunctive treatment of localization-related (focal) epilepsy, and only rarely are new medications released for other types of epilepsy. ...

This critical review refers to the new report on terminology and concepts for the organization of epilepsies by the Commission of the International League Against Epilepsy (ILAE). It is unfortunate that most of the proposals in the Commission's report are modified interpretations and nomenclature of previous ILAE classifications; new terms ...

Early-onset epileptic encephalopathies are severe disorders in which cognitive, sensory, and motor development is impaired by recurrent clinical seizures or prominent interictal epileptiform discharges during the neonatal or early infantile periods. They include Ohtahara syndrome, early myoclonic epileptic encephalopathy, West syndrome, Dravet syndrome, and other diseases, e.g., X-linked myoclonic seizures, ...

The syndrome of malignant migrating partial seizures in infancy (MMPSI) is characterized by onset before the age of 6months, nearly continuous electrographic seizures involving multiple independent areas of onset in both hemispheres, and poor developmental outcome. This report presents a case involving a patient with MMPSI, who later developed West ...

ABSTRACT: The genetic causes underlying epilepsy remain largely unknown, and the impact of available genetic data on the nosology of epilepsy is still limited. Thus, at present, classification of epileptic disorders should be mainly based on electroclinical features. Electro-clinical syndrome is a term used to identify a group of clinical ...

Self-induced seizures by somatosensory stimulation are rare. We describe two epileptic patients with self-induced seizures presumably by peri-orbital somatosensory stimulation. Two infants with severely delayed psychomotor development and poor visual acuity after acute subdural hemorrhage in early infancy had been diagnosed as having West syndrome. They evolutionally became to show ...

Background  Epilepsy occurs with increased frequency in people with an intellectual disability (ID) compared to the rest of the population. A variety of research has in recent years shed light on genetic and biochemical aetiologies of epilepsy and, often in a different literature, on syndromes of ID. The aims of ...

Retroperitoneal liposarcoma is a rare solid tumour of mesenchymal origin with an incidence of 2.5 per million population. We report what is, to the best of our knowledge, the first case in the English literature of retroperitoneal liposarcoma in an adult patient with Down syndrome. The tumour was surgically resected ...

Bremer A, Lossius MI, Nakken KO. Dravet syndrome - considerable delay in making the diagnosis. Acta Neurol Scand: DOI: 10.1111/j.1600-0404.2011.01609.x. © 2011 John Wiley & Sons A/S. Objectives -  To assess delay in diagnosis and clinical characteristics of Dravet syndrome based on the Dravet register at The National Centre for Epilepsy ...

Alpers syndrome is a rare autosomal recessive hepatocerebral degenerative disorder. Seventeen patients with Alpers syndrome or polymerase-γ gene mutations were identified. Case records of 12 patients with Alpers syndrome and polymerase-γ mutations in both alleles were reviewed. All patients manifested developmental delay or regression, refractory epilepsy, and biochemical liver dysfunction. ...

PURPOSE: Ring chromosome 20 {r(20)} - manifests as a refractory epilepsy syndrome with complex partial seizures (CPS), nocturnal frontal lobe seizures and non-convulsive status epilepticus (NCSE) in the majority of cases. r(20) lacks a specific phenotypic expression or dysmorphic features. Psychomotor development may be normal, making the diagnosis difficult unless ...

Hashimoto encephalopathy (HE) is a rare and often reversible neurological syndrome associated with autoimmune thyroiditis and steroid-responsiveness. This syndrome includes behavioral symptoms like delusions and delirium, mood disturbances, epilepsy, progressive cognitive impairment and alteration of vigilance and consciousness with confused state until coma. Two subtypes of clinical presentation are described: ...

Childhood absence epilepsy (CAE) and benign childhood epilepsy with centrotemporal spikes (BCECTS), or benign rolandic epilepsy (BRE), are the most common forms of childhood epilepsy. CAE and BCECTS are well-known and clearly defined syndromes; although they are strongly dissimilar in terms of their pathophysiology, these functional epileptic disturbances share many ...

We report a case of Takotsubo syndrome after epilepsy, and review the literature. We identified 59 cases of Takotsubo syndrome after focal or generalised epilepsy. As in Takotsubo syndrome in general, the patients were mostly female (84%), with a mean age of 63 years, and the evolution was generally favourable. ...

We conducted a retrospective multicenter study on children who had been included in eight studies published between November 2001 and July 2010 to explore the correlations between burst-suppression coma (BSC) with outcome in febrile infection-related epilepsy syndrome (FIRES). The 77 enrolled patients presented with prolonged refractory status epilepticus. BSC was ...

OBJECTIVE: In this study we report the clinical outcomes of hemispherectomy for epilepsy in pediatric patients with special emphasis on the epileptic syndromes and their etiologies. MATERIAL AND METHODS: We retrospectively studied 45 patients with medically refractory epilepsy with hemispheric lesions who underwent hemispherectomy at the "Hospital de Pediatría Prof. ...

Epilepsies can be caused by specific genetic anomalies or by non-genetic factors, but in many cases the underlying cause is unknown. Mutations in the SCN1A and SCN2A genes are reported in childhood epilepsies; in particular SCN1A was found mutated in patients with Dravet syndrome and with generalized epilepsy with febrile ...

Hemiconvulsion-hemiplegia-epilepsy syndrome involves sudden and prolonged unilateral seizures, followed by transient or permanent hemiplegia and epilepsy during infancy or early childhood. Some patients with familial hemiplegic migraine and demonstrating the S218L mutation in CACNA1A experience severe attacks with unilateral cerebral edema after trivial head trauma. We report on a 5-year-old ...

This paper proposes therapeutic guidelines for the management of some epileptic syndromes in infants, children, and adolescents, based on available medical literature and clinical practice in the French Community of Belgium. The guidelines address both epileptic encephalopathies (West syndrome, Lennox-Gastaut syndrome, and Dravet syndrome) and idiopathic epilepsies (typical absence seizures, ...

Aims. A review of recent knowledge on heredital syndromes related to renal cell carcinoma. Methods. Aim of this review was to summarize the recent knowledge of genetic syndromes associated with renal cell carcinoma. Results. Summary of incidence and factors modulating risk of hereditary renal cell carcinoma development. Conclusions. Hereditary forms ...

Although there is strong evidence that genetic factors contribute to risk for epilepsy, their role in the determination of syndrome type is less clear. This study was undertaken to address this question. Information related to epilepsy was obtained from twins included in 455 monozygotic and 868 dizygotic pairs ascertained from ...

Perioral myoclonia with absences belongs to the "idiopathic generalised epilepsy syndromes in development", currently not yet cited in the ILAE classification. This epilepsy syndrome is associated with a seizure type that appears to be specific. Here, we report polygraphic recordings of this seizure type in a young boy, previously misdiagnosed ...

A girl with Aicardi syndrome was observed to have two distinct types of asymmetric epileptic spasms, as detected by ictal video-EEG recording at three months of age. When the two types of spasm concurred, they showed no mutual interactions based on either clinical or EEG aspects. This observation does not ...

We present two children who exhibited the characteristics of Dravet syndrome during infancy and young childhood, with SCN1A mutation, but nevertheless achieved seizure freedom for at least four years during adolescence. These patients had no episodes of convulsive status epilepticus with a duration of more than 30 minutes and their overall ...

We report two individual cases of cardio-facio-cutaneous (CFC) syndrome with severe neurological impairment consisting of infantile spasms with hypsarrhythmia and refractory epilepsy with multifocal epileptic paroxysms such as modified hypsarrhythmia. Both cases shared diffuse brain atrophy and severely delayed myelination on neuroimaging. Genetic analysis revealed individual heterozygous mutations in the ...

The characteristic electroclinical features of Lennox-Gastaut syndrome (LGS) have been extensively reported, but the influence of the constellation of slow spike-and-wave (SSW) complexes with multiple seizure types (including atypical absence seizures [AAS] and tonic seizures [TS]) on patients with this syndrome is still unclear. We report the case of a ...

Lennox-Gastaut syndrome (LGS) is an intractable childhood-onset epileptic encephalopathy. Seizure freedom is rare in LGS. One of the hallmarks of LGS is medical intractability, with generally poor response to antiepileptic drugs (AEDs). Nevertheless, several treatment options are available that can mitigate the severity of seizures and curtail their frequency. New ...

Panayiotopoulos syndrome is early-onset benign childhood epilepsy, now classified as an electroclinical syndrome. The original description in 1989 focused on the triad of nocturnal seizures, tonic eye deviation, and vomiting. With available data from the long-term studies, a wide variety of manifestations have been described, with recognition of autonomic features ...

Lennox-Gastaut syndrome (LGS) is a rare epileptic encephalopathy with a peak age of onset of 3-5 years of age. Reported prevalence rates for LGS vary widely from 1-10% of all childhood epilepsies. Incidence rates are much lower. LGS is characterized by intractable, multiple, generalized seizure types and an interictal electroencephalogram showing ...

Recent studies have shown that aberrations of CDKL5 in female patients cause early-onset intractable seizures, severe developmental delay or regression, and Rett syndrome-like features. We report on a Japanese girl with early-onset epileptic encephalopathy, hypotonia, developmental regression, and Rett syndrome-like features. The patient showed generalized tonic seizures, and later, massive ...

Benign myoclonic epilepsy in infancy (BMEI) is a rare syndrome included among idiopathic generalized epilepsies (IGE) and syndromes with age-related onset. Recently, it has been shown that a few patients with BMEI later had other epilepsy types mainly IGE but never childhood absence epilepsy (CAE). We report a patient who ...

Hemiconvulsion-hemiplegia-epilepsy syndrome is characterized by unilateral convulsions during fever, transient hemiplegia, and subsequent partial epilepsy with atrophy in the cerebrum. A 9-year-old boy with a history of West syndrome and hypoglycemic attacks had three episodes of epileptic status and clusters mimicking HHE syndrome over a 2-year period. Magnetic resonance imaging ...

New daily persistent headache (NDPH) is a recognized subtype of chronic daily headache with a unique presentation of a daily headache from onset typically in individuals with minimal or no prior headache history. Various secondary mimics of NDPH have now been documented but at present there has been no association ...

Functional hemispherectomy is an accepted treatment in hemispherical intractable epilepsy syndromes. We report a patient who had functional hemispherectomy for intractable seizures secondary to right hemispheric cortical dysplasia. Preoperatively, the patient had mild left hemiparesis and functional magnetic resonance imaging (fMRI) showed bilateral motor function lateralization to normal left hemisphere. ...

Posterior reversible encephalopathy syndrome (PRES) is a cliniconeuroradiological syndrome associated with various clinical conditions, presenting with headache, encephalopathy, seizures, cortical visual disturbances or blindness. Imaging predominantly shows parieto-occipital white matter changes, with vasogenic oedema being the most accepted pathophysiology. We report a 25-year-old primigravida who presented in term pregnancy with ...

Purpose:  Health-related quality of life (HRQOL) has emerged as a widely accepted measure to evaluate how chronic disease impacts on an individual's physical, social, and mental well-being. There is a paucity of data focusing on HRQOL in specific epilepsy syndromes and their associated needs. In this study our aim was ...

We report an unusual case of Parry-Romberg syndrome in which medically refractory focal epilepsy with ongoing epilepsia partialis continua (EPC) arose from the hemisphere contralateral to the side of facial atrophy. Unilateral cerebral involvement was confirmed by multi-modal brain imaging, as well as by electroencephalography (EEG) and magnetoencephalography (MEG). While ...

Pallister-Hall syndrome (PHS) is a very rare syndrome characterized by hypothalamic hamartoma (HH), polydactyly, panhypopituitarism, imperforate anus and other visceral anomalies. Contrary to patients with isolated HH, neurological dysfunction and precocious puberty are uncommon and seizures are usually well controlled with anticonvulsant medication. Therefore, conservative management of HH is advised. ...

We present an 8-year-old boy with folate receptor alpha (FRα) defect and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM syndrome). Both conditions are exceptionally rare autosomal recessive inherited diseases mapped to 11q13. Our patient was found to have novel homozygous nonsense mutations in the FOLR1 gene (p.R204X), and ...

Rett syndrome is a neurodevelopmental disorder predominately affecting females. The majority of patients have epilepsy in the early stages of the disease. This study evaluates the clinical course of epilepsy and the effect of antiepileptic drug treatment in Rett syndrome using retrospective data analysis. Epilepsy was present in 16 of ...

In this study, we describe three patients who each had two different forms of idiopathic focal epilepsiy. Two of these patients had electroclinical features compatible with Panayiotopoulos syndrome and benign childhood epilepsy with centro-temporal spikes (BCECTS), one of whom developed a particular electroclinical picture of atypical benign focal epilepsy and ...

Malignant migrating partial seizures in infancy is an epilepsy syndrome characterised by an onset before the age of six months, multifocal seizures and an EEG pattern consisting of seizures which occur independently and sequentially from both hemispheres. The clinical course of a four-month-old boy with this syndrome, illustrated by video ...

We describe a 13-year-old girl with short stature and delayed puberty who presented with hematochezia and recurrent abdominal pain for 1 year, and progressive weight loss for 6 months. Per rectal examination was suggestive of a rectal mass. Histopathologic evaluation of the proctoscopy-guided biopsy specimen showed rectal adenocarcinoma. Computerized tomography ...

Lennox-Gastaut syndrome (LGS) is a severe, chronic, epileptic encephalopathy, primarily with childhood onset, which is characterised by a triad of features: multiple seizure types, including tonic seizures that may appear late in the course of the disorder; abnormal EEG features with slow spike-wave discharges; and cognitive impairment. Recognition of LGS ...

Joubert syndrome is a very rare disorder characterised by respiratory irregularities, saccadic eye movements, hypotonia, ataxia, developmental retardation with abnormalities of cerebellum and brainstem. Epilepsy is rarely associated with this syndrome. Herein such a case with associated epilepsy is presented. Here in this case, a male child of 4 years ...

The heterozygous 15q13.3 microdeletion syndrome (MIM #612001) was first described by Sharp et al. in 2008. So far four patients with 15q13.3 homozygous or compound heterozygous microdeletions have been identified. Here we report a non-consanguineous family with two affected siblings carrying a homozygous microdeletion of ∼1.5 Mb at the 15q13.3 locus. They presented ...

J Oral Pathol Med (2011) Background:  Sjögren's syndrome (SS) occurs associated with parotid neoplasm, non-Hodgkin's B-cell lymphoma, which could impair the condition or be life-threatening for patients. The aim of this work was to analyze cell proliferation and apoptosis modifications in acinar, ductal and inflammatory infiltrate in salivary glands (SG) ...

This is the case of a 32 year-old-male with chronic kidney disease in hemodialysis who presented with uncontrolled blood pressure after admission to the hospital further complicated with seizures. Head CT-Scan revealed hypodensives areas in sub-cortical white matter and parietal-occipital lobes. Posterior reversible leukoencephalopathy syndrome (PRES) was diagnosed by radiologic ...

Short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing (SUNCT) syndrome is a rare headache syndrome classified among the trigeminal autonomic cephalalgias. It is usually idiopathic, although infrequent secondary forms have been described. Recently, the term short-lasting unilateral headache with cranial autonomic symptoms (SUNA) has been defined by the ...

15q13.3 deletion syndrome (15q13.3DS) is a common recurrent genomic disorder associated with epilepsy, intellectual impairment, aggressive behavior, schizophrenia, and autism. A 39-year-old male presented with 15q13.3DS, epilepsy, intellectual impairment, psychosis, and recurrent episodes of aggressive rage. We hypothesized that the patient's aggressive behavior reflected deficits in α7 nicotinic cholinergic receptor ...