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Kim Young Ok YO Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Melbourne, Australia; Department of Paediatrics, School of Medicine, Chonnam National University, Gwangju, - - 2014
To show that atypical multifocal Dravet syndrome is a recognizable, electroclinical syndrome associated with sodium channel gene (SCN1A) mutations that readily escapes diagnosis owing to later cognitive decline and tonic seizures. Eight patients underwent electroclinical characterization. SCN1A was sequenced and copy number variations sought by multiplex ligation-dependent probe amplification. All ...
Tso Winnie W Y - - 2013
Ohtahara syndrome is a severe condition with early onset of recurrent unprovoked seizures associated with abnormal electroencephalography and global developmental delay. Folinic acid-responsive seizures are treatable causes of Ohtahara syndrome, which is thought to be due to recessive mutations in the ALDH7A1 gene, resulting in deficiency of antiquitin. Here we ...
Kose Emine Arzu EA Department of Anesthesiology and Reanimation, School of Medicine, Kirikkale University, Kirikkale, Turkey. Electronic address: - - 2014
Walker-Warburg Syndrome is a rare, autosomal recessive congenital muscular dystrophy manifested by central nervous system, eye malformations and possible multisystem involvement. The diagnosis is established by the presence of four criteria: congenital muscular dystrophy, type II lissencephaly, cerebellar malformation, and retinal malformation. Most of the syndromic children die in the ...
Park Mi-Na - - 2013
A 34-month-old female patient who had a prior history of generalized tonic-clonic seizures had been diagnosed with the Lennox-Gastuat syndrome. She was scheduled for epiblepharon repairs in both lower lids under general anesthesia. Preoperatively, her tonic seizure was poorly controlled with antiepileptic drugs. General anesthesia with thiopental and isoflurane was ...
Friedman Daniel D Department of Neurology and Comprehensive Epilepsy Center, NYU School of Medicine, New York, NY, United States. Electronic address: - - 2013
Little is known about the ethnic and racial differences in the prevalence of generalized and focal epilepsy among patients with non-acquired epilepsies. In this study, we examined epilepsy classification and race/ethnicity in 813 probands from sibling or parent-child pairs with epilepsy enrolled in the Epilepsy Genome/Phenome Project (EPGP). Subjects were ...
Giovannini Simona - - 2013
To characterize epileptic phenotype, electroencephalography (EEG) features, and epileptic evolution in patients with ring 14 r(14) syndrome. Twenty-two patients with ring chromosome 14 were enrolled in the study. We examined age at onset, seizure semiology and frequency at onset and at follow-up, drug responsiveness/resistance, and interictal/ictal EEG data. The degree ...
Chary Prithika P Department of Neurology, Clinical Neurophysiology, Global Hospital, Chennai, Tamil Nadu, - - 2013
Benign occipital seizure syndromes are benign childhood epilepsy syndromes and are mainly of two types, Panayiotopoulos syndrome, an autonomic epilepsy and idiopathic childhood occipital epilepsy of Gastaut (ICOE-G) including the idiopathic photosensitive occipital lobe epilepsy. Although both these types are categorized as occipital seizures, they are distinct in presentation and ...
Sandorfi Gabor G Department of Cardiology, University of Debrecen, Debrecen, - - 2013
We describe a patient with the coincidence of 2 ion channel disorders with autosomal dominant inheritance: Brugada syndrome, a potentially fatal cardiac condition, and cryptogenic focal epilepsy, likely due to a neurologic channelopathy. Although Brugada syndrome was discovered incidentally, most of the clinical features of epilepsy in this patient shared ...
Child Nicholas D ND From the Department of Neurology, Mayo Clinic, Rochester, - - 2013
A 55-year-old man presented with seizures characterized by "tightening" of the right side and variable loss of awareness. EEG showed focal epileptogenic abnormalities over left and midline central regions. MRI showed left frontal focal cortical dysplasia (figure 1). He had multiple skin lesions (figure 2) and colonoscopy revealed gastrointestinal mucosal ...
Chen Tai-Heng - - 2013
To study presentations and outcome of posterior reversible encephalopathy syndrome in children, we retrospectively analyzed 14 patients admitted to our pediatric intensive care unit. We further assessed 94 additional pediatric cases from a systematic review. Our patients had a mean age of 11.6 years. Their precipitating factors were hypertension (100%), ...
Haginoya Kazuhiro - - 2013
The recent findings on subtraction ictal SPECT and ictal near-infrared spectroscopic topography in patients with West syndrome were summarized and its availability for presurgical evaluation was discussed. The subtraction ictal SPECT study in patients with West syndrome demonstrated the cortical epileptic region and subcortical involvement, which may consist of epilepsy ...
Kumar Ajay - - 2013
PET and SPECT can play an important role in the evaluation of various epileptic syndromes, particularly those with unknown causes, by revealing various underlying abnormalities that may not be fully appreciated from MR imaging studies. In some cases, PET and SPECT provide crucial data that guide surgical resections of the ...
Boccuto Luigi L Greenwood Genetic Center, Greenwood, SC 29646, - - 2014
'Salt & Pepper' syndrome is an autosomal recessive condition characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation. High-density SNP array analysis performed on siblings first described with this syndrome detected four shared regions of loss of heterozygosity (LOH). Whole-exome sequencing narrowed the candidate ...
Rodríguez-Osorio X - - 2013
Anticonvulsant hypersensitivity syndrome is an adverse drug reaction usually occurring from 1 to 8weeks after exposure to antiepileptic drugs. It can threaten life by affecting the liver, kidneys, central nervous system or lungs. We present a 47-year-old patient treated with phenytoin, lamotrigine and clobazam for 7years. He presented with hepatic ...
Davis Rebecca R Department of Neurology, University of Pennsylvania, Philadelphia, PA, - - 2013
The recent discovery of a category of autoimmune encephalitis associated with antibodies against neuronal cell-surface and synaptic proteins has renewed interest for autoimmune causes of epilepsy. The identification of autoimmune encephalitis has changed paradigms in the diagnosis and management of several novel and treatable syndromes that occur with seizures and ...
Bamanikar Arvind - - 2013
Drug hypersensitivity syndrome is characterized by fever, skin rash and internal organ involvement. It is commonly seen with aromatic group of anticonvulsants viz. phenytoin, carbamazepine and phenobarbitone. Here, we report a case of hypersensitivity reaction to pregabalin, used for treating postherpetic neuralgia.
Korkmaz Hüseyin Anıl HA Division of Pediatric Endocrinology, Department of Pediatrics, Dr. Behçet Uz Children's Disease and Surgery Training and Research Hospital, İzmir, Turkey. - - 2013
Celiac disease (CD) affects up to 1% of the general population. Classically, it manifests with intestinal symptoms (diarrhea, steatorrhea, abdominal pain or discomfort) associated with weight loss and anemia. Seizure is a rare form of presentation of CD. A 13-year-old female patient with Down syndrome was admitted to the pediatric ...
Dowell Scott F - - 2013
An epidemic illness characterized by head nodding associated with onchocerciasis has been described in eastern Africa since the early 1960s; we summarize published reports and recent studies. Onset of nodding occurs in previously healthy 5-15-year-old children and is often triggered by eating or cold temperatures and accompanied by cognitive impairment. ...
Nabbout Rima - - 2013
Idiopathic hemiconvulsion hemiplegia and epilepsy syndrome (IHHE) and febrile infection-related epilepsy syndrome (FIRES) are rare epileptic syndromes characterized by the occurrence of status epilepticus in a previously healthy child during or closely after a febrile episode. In both syndromes, there is no evidence of central nervous system infection (encephalitis) and ...
Neki N S NS Government Medical College, Amritsar, Punjab, India - Department of - - 2013
Hyperperfusion syndrome, previously known as posterior reversible encephalopathy syndrome (PRES), is a clinico- radiological entity with characteristic features on neuro-imaging. It is believed to be caused by vasogenic oedema, predominantly in the posterior cerebral hemispheres. We report the case of an elderly man who presented with convulsions and was diagnosed ...
Cross J Helen JH Neurosciences Unit, Great Ormond Street Hospital for Children NHS Trust and UCL-Institute of Child Health, London, UK. - - 2013
Recently, we reported a previously unrecognized symptom constellation comprising epilepsy, ataxia, sensorineural deafness, and tubulopathy (EAST syndrome) associated with recessive mutations in the KCNJ10 gene. Here, we provide a detailed characterization of the clinical features of the syndrome to aid patient management with respect to diagnosis, prognostic counselling, and identification ...
Verrotti Alberto - - 2013
To describe the electroclinical features and the long-term outcomes of epilepsy in a large cohort of males and females with Down syndrome who developed epilepsy in childhood. Subjects with Down syndrome and cryptogenic epilepsy with onset in childhood were identified retrospectively from the databases of 16 Italian epilepsy centers over ...
Unver Olcay - - 2013
The syndrome of malignant migrating partial seizures in infancy is a rare epileptic syndrome with a devastating course characterized by early onset of continuous pharmacoresistent multifocal seizures arising from multiple independent sites of both hemispheres with unknown etiology. A 2-month-old boy with the characteristic clinical and electroencephalograph pattern of migrating ...
Kasasbeh Aimen S - - 2013
Aicardi syndrome (AS) is a severe neurodevelopmental disorder characterized by the triad of seizures, agenesis of corpus callosum, and chorioretinal lacunae. Seizures in AS are typically frequent, of various types, and refractory to medical therapy. Optimal treatment of seizures in AS remains undetermined. We report a series of four patients ...
Nakayama Tojo - - 2013
Proximal 4p deletion syndrome is characterized clinically by mental retardation, minor dysmorphic facial features, and is occasionally complicated with epilepsy. More than 20 cases of proximal 4p deletion syndrome have been reported, but the causative gene(s) remain elusive. We describe here a 2-year-old female patient with a common manifestation of ...
Pietzner Vera - - 2013
Abstract Background: Impaired glucose tolerance and type 2 diabetes are well-known features in patients with Turner syndrome. To the best of our knowledge, there is only one reported case of hyperinsulinemic hypoglycemia associated with a complex mosaic Turner syndrome available in the current literature. Patient: We report on the case ...
Youssoufa Maïga - - 2013
Eclampsia is known to cause posterior reversible encephalopathy syndrome (PRES) that is often associated with an extensive neurovascular damage affecting preferably posterior regions, often leading to reversible cortical blindness. In spite the magnitude of these lesions, post eclamptic symptomatic epilepsy is rare. We therefore report a case of symptomatic occipital ...
Lacaze Elodie E Department of Genetics, Hôpital Côte de Nacre, Caen, - - 2013
West syndrome is a well-recognized form of epilepsy, defined by a triad of infantile spasms, hypsarrhythmia and developmental arrest. West syndrome is heterogenous, caused by mutations of genes ARX, STXBP1, KCNT1 among others; 16p13.11 and 17q21.31 microdeletions are less frequent, usually associated with intellectual disability and facial dysmorphism. So-called "idiopathic" ...
Chen Chih-Ping - - 2013
We present a 19-year-old male with laxity of skin and joints, sparse scalp hair, facial dysmorphism, epilepsy, multiple exostoses, scoliosis, gastroesophageal reflux, cardiovascular defects, and an 8q23.3-q24.22 deletion detected by array comparative genomic hybridization. The patient was previously misdiagnosed as having Ehlers-Danlos syndrome. However, his clinical findings are in fact ...
Ermeidi Eleni - - 2013
Background: Posterior reversible encephalopathy syndrome (PRES) is a clinico-radiologic entity characterized by headache, visual disturbances, seizures, and the presence of edema on MRI scan, predominantly in the posterior white matter. Regarding end-stage renal disease (ESRD) and PRES, only a few cases of children on peritoneal dialysis (PD) and adults on ...
Akasaka Noriyuki - - 2013
Mosaic variegated aneuploidy syndrome (Online Mendelian Inheritance in Man 257300), or premature chromatid separation syndrome, is a rare cancer-prone disorder associated with an autosomal recessive trait related to BUB1B gene mutations. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases. Clinical features also ...
Muro Valeria L - - 2013
Transient cortical visual impairment is a common aura of occipital lobe seizures. However, status amauroticus for hours has rarely been described as a manifestation of occipital lobe status epilepticus. To describe status amauroticus caused by focal status epilepticus of occipital lobe origin in two children with MRI findings consistent with ...
Hazle Matthew A - - 2013
Children and young adults with potentially lethal cardiac channelopathies often present to medical care with a history of syncope or seizures due to episodic ventricular arrhythmias and associated cerebral hypoperfusion. Two important types of genetic arrhythmia syndromes-long QT syndrome and catecholaminergic polymorphic ventricular tachycardia-are discussed using relevant case examples. The ...
Kim Dong Wook - - 2013
Genetic mutations in SCN1A account for more than two-thirds of patients with classic Dravet syndrome. A role for SCN1A genetic mutations in the development of hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome was recently suggested based on the observation that HHE syndrome and classic Dravet syndrome share many clinical features. We previously identified a ...
Peron Angela A Clinical Genetics Service, V. Buzzi Children's Hospital, ICP, Milan, Italy. - - 2013
Snyder-Robinson syndrome is a rare form of X-linked intellectual disability caused by mutations in the spermine synthase (SMS) gene, and characterized by intellectual disability, thin habitus with diminished muscle mass, osteoporosis, kyphoscoliosis, facial dysmorphism (asymmetry, full lower lip), long great toes, and nasal or dysarthric speech. Physical signs seem to ...
Zhu Xin - - 2013
1p36 deletion (monosomy 1p36) is one of the most common terminal deletions observed in humans, characterized by special facial features, mental retardation, heart defects, development delay and epilepsy. Previously, we reported molecular findings in patients with limb, congenital heart disease (CHD) and other malformations with SNP-array. In a syndromic patient ...
Seshadri Roopa - - 2013
Six-month-old twins, born to a consanguineous couple, presented with hypotonia, hypothermia, seizures, and developmental delay. Babies were fair complexioned; scalp hairs were sparse, light-colored, and fragile (figure 1), with regularly spaced twists (pili-torti) and nodes (trichorrhexis-nodosa). MRI brain revealed generalized atrophy with tortuous arteries (figure 2). Low plasma copper and ...
Kalume Franck - - 2013
Sudden unexpected deaths in epilepsy (SUDEP) occur at an alarming higher rate in patients with Dravet syndrome (DS) than in patients with most other forms of epilepsy. DS is a severe infantile-onset epilepsy caused by a heterozygote loss-of-function mutation in SCN1A, which encodes the voltage-gated-sodium channel NaV 1.1. The mechanisms ...
Kolovou Vasiliki - - 2013
Children with sickle cell disease are at increased risk for neurological complications. Reversible posterior leukoencephalopathy syndrome is a clinico-radiological syndrome characterized by headache, vomiting, seizures, and visual disturbances along with the radiological findings of posterior leukoencephalopathy. We report a 13-year-old female with sickle cell disease presenting with a headache and ...
Ozdemir Hasan H HH Department of Neurology, Bismil State Hospital, Diyarbakır, - - 2013
Absence status epilepticus (ASE) is a type of nonconvulsive status epilepticus in which continuous or recurrent generalized epileptiform discharges are associated with a varying grade of consciousness impairment. Absence status epilepticus may be obtained during progress of many epileptic syndromes, in several metabolic disturbances and related to use of several ...
Pati Sandipan - - 2013
Lennox-Gastaut syndrome is a catastrophic childhood cryptogenic or symptomatic epilepsy. Hypothalamic hamartomas cause refractory epilepsy often consistent with Lennox-Gastaut syndrome. Children with Lennox-Gastaut syndrome were defined by a triad of multiple generalized seizure types, slow spike-and-wave on EEG, and mental retardation. Twenty-one of 159 hypothalamic hamartoma patients (14%) met the ...
Genton Pierre - - 2013
Juvenile myoclonic epilepsy (JME) has been the subject of intensive research over the past 25years. It was discovered stepwise in Switzerland and France in the 19th century, adequately described in Germany and Uruguay in the 1950s, and rediscovered in North America in the early 1980s. Juvenile myoclonic epilepsy represents the ...
Camfield Carol S - - 2013
Juvenile myoclonic epilepsy (JME) is a widely recognized presumed genetic, electroclinical idiopathic generalized epilepsy syndrome. The prevalence of JME in large cohorts has been estimated to be 5% to 10% of all epilepsies and around 18% of idiopathic generalized epilepsies but may be lower in some settings. There is a ...
Pardo Iris Alessandra S - - 2013
Encephalocraniocutaneous lipomatosis (ECCL), also known as Haberland's Syndrome, is a sporadically occurring neurocutaneous syndrome with no gender or race predilection. ECCL patients present with a broad spectrum of clinical manifestations, often in a unilateral distribution. The hallmark of ECCL is the nevus psiloliparus, a soft, bulging, lipomatous scalp lesion, with ...
Gaily Eija - - 2013
Dravet syndrome is an autosomal dominant epileptic encephalopathy of childhood, which is caused mainly by SCN1A and PCHD19 mutations. Although Dravet syndrome is well recognized, the causes of acute encephalopathy are still elusive, and reported data on ictal electroencephalography (EEG) and structural brain abnormalities are scarce. We studied 30 children ...
Banne Ehud E Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, - - 2013
West syndrome (WS) is an epileptic encephalopathy of childhood, defined by the presence of clustered spasms usually occurring before the age of 1 year, hypsarrhythmia on EEG that is notoriously difficult to define, and developmental arrest or regression. The incidence of WS is 1:3200 live births with an aetiology-dependent prognosis. ...
Scalais Emmanuel - - 2013
Primary coenzyme Q10 (CoQ10) deficiencies are heterogeneous autosomal recessive disorders. CoQ2 mutations have been identified only rarely in patients. All affected individuals presented with nephrotic syndrome in the first year of life. An infant is studied with myoclonic seizures and hypertrophic cardiomyopathy in the first months of life and developed ...
Myrnäs Anna - - 2013
Thrombotic angiopathies, i.e. haemolytic uremic syndrome and thrombotic thrombocytopenic purpura, are thought to occur in patients with a combination of risk factors (e.g., an infection with shiga-toxin-producing Escherichia coli (E. coli) or low activity of the metalloproteinase Adamts-13) and a pathophysiological trigger (e.g., anti-endothelial antibodies, cytokines or activation of chemokine ...
Vignoli Aglaia - - 2013
Interstitial deletions of the long arm of chromosome 6 represent a rare genomic disorder. Variable phenotypes has been reported in patients carrying this deletion, including facial dysmorphisms, intellectual disability/developmental delay, growth retardation and hypotonia, upper limb and cardiac malformations, and Prader-Willi (PWS)-like features. We describe a new patient with an ...
Cheung Evelyn Ning Man - - 2013
Purpose:Hypocalcemia is a common endocrinological condition in 22q11.2 deletion syndrome. Neonatal hypocalcemia may affect neurodevelopment. We hypothesized that neonatal hypocalcemia would be associated with rare, more severe forms of intellectual disability in 22q11.2 deletion syndrome.Methods:We used a logistic regression model to investigate potential predictors of intellectual disability severity, including neonatal ...
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