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Buraniqi Ersida E Istanbul School of Medicine, Istanbul University, Istanbul, - - 2014
Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, agenesis of the corpus callosum, seizures, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies. We report a 2-year-10-month-old white female with this syndrome caused by mutations ...
Figura Maria Grazia MG Unit of Neurology and Clinical Neurophysiopathology, Oasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina (EN), - - 2014
The 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome, is a rare genetic disorder characterized by hypotonia, severely impaired development of speech and language, autistic-like behaviour, and minor dysmorphic features. Neurologic problems may include seizures of different types, such as febrile, generalized tonic-clonic, focal, and absence seizures. No peculiar EEG ...
Koepp Matthias J MJ Department of Clinical and Experimental Epilepsy, University College London - Institute of Neurology, 33 Queen Square, London WC1N 3BG, - - 2014
Juvenile myoclonic epilepsy (JME) is a clinically and genetically heterogenous, generalized epilepsy syndrome usually starting in adolescence. An age-related, predominantly frontocortical-subcortical network dysfunction is likely to be the substrate of bilateral myoclonic seizures occurring at full consciousness within hours after awakening, which are the clinical hallmark of JME. Although essential ...
d'Orsi Giuseppe G Department of Neurological Sciences, Epilepsy Centre, Clinic of Nervous System Diseases, Ospedali Riuniti Foggia, University of Foggia, Via Luigi Pinto 1, 71100, Foggia, Italy, - - 2014
This study aimed to elucidate the natural history of senile myoclonic epilepsy, a type of myoclonic epilepsy associated with Alzheimer's disease in adult Down syndrome patients. Twelve Down syndrome patients over the age of 40 years with myoclonic epilepsy and Alzheimer's disease underwent clinical, neuropsychological, neurophysiological, and neuroradiological study. The kariotypes, ...
Park Kyung-Il KI Department of Neurology, Inje University College of Medicine, Seoul Paik Hospital, Seoul, - - 2014
Dyke-Davidoff-Masson syndrome (DDMS) has cerebral hemiatrophy and compensatory ipsilateral skull thickening, and is manifested by recurrent seizures and hemiparesis. We present one case with typical DDMS, who had a brother suffering from epilepsy with mild imaging abnormality relevant to DDMS and similar seizure semiology. A 26-year-old man had a history ...
Jeon Ji-Su JS Department of Neurology, School of Medicine, Kyungpook National - - 2014
Posterior reversible encephalopathy syndrome (PRES) is characterized by variable associations of seizure activity, consciousness impairment, headaches, visual abnormalities, nausea/vomiting, and focal neurological signs. The PRES may occur in diverse situations. The findings on neuroimaging in PRES are often symmetric and predominate edema in the white matter of the brain areas ...
Hatanaka Mari M Department of Pediatrics, Rakuwakai Otowa Hospital, - - 2014
We report the case of an overlapping encephalopathy syndrome consisting of clinically mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) and a mild form of acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) caused by human herpesvirus-6. A previously healthy 17-month-old girl was admitted to our hospital as ...
Brunklaus Andreas A The Paediatric Neurosciences Research Group, Royal Hospital for Sick Children, Glasgow, United Kingdom; College of Medicine, Veterinary & Life Sciences, University of Glasgow, Glasgow, United - - 2014
Mutations in the gene encoding the α1 subunit of the voltage gated sodium channel (SCN1A) are associated with several epilepsy syndromes, ranging from relatively mild phenotypes found in families with genetic epilepsy with febrile seizures plus (GEFS+) to the severe infant-onset epilepsy Dravet syndrome. Evidence has emerged of the consequences ...
Fernández-Jaén Alberto A Pediatric Neurology Unit, Quiron University Hospital, Madrid, - - 2014
Interstitial microduplication of 3q29 has been recently described. Individuals with this syndrome have widely variable phenotypes. We describe the first clinical case with a 1.607 Mb duplication at 3q29 (chr3: 195,731,956-197,339,329), accompanied by severe intellectual disability, epilepsy, and cerebral palsy. This duplication involves 22 genes; PAK2, DLG1, BDH1, and FBXO45 are ...
Pollak T A TA National Institute for Health Research (NIHR) Biomedical Research Centre, South London and Maudsley NHS Foundation Trust and Institute of Psychiatry, King's College London, UK; Section of Cognitive Neuropsychiatry, Department of Psychosis Studies, Institute of Psychiatry, De Crespigny Park, London SE5 8AF, - - 2014
Postictal psychosis (PIP) is a serious psychiatric complication of epilepsy that occurs in approximately 6% of patients following multiple complex partial or generalized seizures. The psychosis is classically described as having a pleomorphic phenomenology, including paranoid, grandiose, and religious delusions as well as multimodal hallucinations with prominent affective changes and ...
Novara Francesca F Department of Molecular Medicine, University of Pavia, Pavia, - - 2014
NSD1 point mutations, submicroscopic deletions and intragenic deletions are the major cause of Sotos syndrome, characterized by pre-postnatal generalized overgrowth with advanced bone age, learning disability, seizures, distinctive facial phenotype. Reverse clinical phenotype due to 5q35 microduplication encompassing NSD1 gene has been reported so far in 27 cases presenting with ...
Busquets-Garcia Arnau A Departament de Ciències Experimentals i de la Salut. Universitat Pompeu Fabra, 08003 Barcelona, - - 2014
Fragile X syndrome is the most common monogenetic form of intellectual disability and is a leading cause of autism. This syndrome is produced by the reduced transcription of the fragile X mental retardation (FMR1) gene, and it is characterized by a range of symptoms heterogeneously expressed in patients such as ...
Simsek-Kiper Pelin Ozlem PO Pediatric Genetic Unit, Department of Pediatrics, Hacettepe University, Ankara, - - 2014
The Barraquer-Simons syndrome or acquired parital lipodystrophy is a rare form of partial lipodystrophy characterized by gradual onset of bilaterally symmetrical subcutaneous fat loss from the face, neck, upper extremities, thorax, and abdomen but sparing the lower extremities. The patients gradually loose their subcutaneous fat in clearly demarcated, generally symmetric ...
Purcarin Gabriela G Department of Neurology, University of Oklahoma, Oklahoma City, OK, - - 2014
Clobazam is a 1,5-benzodiazepine used successfully worldwide since the 1970s as an anxiolytic and antiepileptic drug. Since its recent Food and Drug Administration (FDA) approval in the United States in 2011 as adjunctive treatment for Lennox-Gastaut syndrome, it has continued to show sustained efficacy and a better safety and tolerability ...
Alter Aliza S AS 1Department of Neurology, Columbia University, New York, NY, - - 2014
Our objective is to characterize the long-term course of Glut1 deficiency syndrome. Longitudinal outcome measures, including Columbia Neurological Scores, neuropsychological tests, and adaptive behavior reports, were collected for 13 participants with Glut1 deficiency syndrome who had been followed for an average of 14.2 (range = 8.9-23.6) years. A parent questionnaire ...
Tata Gulten G Department of Neurology, Ozel Yeni Iklim - - 2014
Aim. Panayiotopoulos syndrome (PS) is an age-related seizure susceptibility syndrome that affects the central autonomic system. Although the majority of the few ictal recordings obtained so far suggest an occipital origin, semiological and interictal EEG data appear to favour more extensive involvement. In this study, the characteristics (including those based ...
Defelipe-Mimbrera Alicia A Department of Neurology, IRYCIS (Health Research Institute), Madrid, Spain. Electronic address: - - 2014
We report a case of a woman who had two consecutive autoimmune neurological disorders, including an opsoclonus-myoclonus syndrome (OMS) and limbic encephalitis (LE), with positive titers of GABAB receptor antibodies. The patient never developed seizures or had an underlying tumor after 4years of follow-up.
Choi Jun Yong JY Department of Neurology, Inha University Hospital, 7-206, 3-Ga, Sinheung-Dong, Jung-Gu, Incheon 400-711, Republic of - - 2014
Subacute encephalopathy with seizures in alcoholics (SESA) syndrome is a unique disease entity characterized by typical clinical and electroencephalographic (EEG) features in the setting of chronic alcoholism. We present two patients with distinctive serial MRI and EEG findings which suggest a clue to the underlying pathophysiologic mechanisms of SESA syndrome. ...
Zerem Ayelet A Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel; Metabolic Neurogenetic Clinic, Wolfson Medical Center, Holon, - - 2014
Ohtahara syndrome is a devastating early infantile epileptic encephalopathy caused by mutations in different genes. We describe a patient with Ohtahara syndrome who presented on the first day of life with refractory tonic seizures and a suppression-burst pattern on EEG. The patient developed severe microcephaly, and never achieved any developmental ...
Sofou Kalliopi - - 2014
Leigh syndrome is a progressive neurodegenerative disorder, associated with primary or secondary dysfunction of the mitochondrial oxidative phosphorylation. Despite the fact that Leigh syndrome is the most common phenotype of mitochondrial disorders in children, longitudinal natural history data is missing. This study was undertaken to assess the phenotypic and genotypic ...
Parissis D D AHEPA Hospital, Stilponos Kyriakidi 1, Thessaloniki, Greece. Electronic address: - - 2014
We report on a 25year old female patient who had a diagnosis of Jeavons syndrome since her childhood. Although valproate led to seizure freedom, she developed persistent reproductive endocrine disorders attributed to this drug. The withdrawal of valproate in parallel with an initiation of levetiracetam monotherapy resulted in a maintenance ...
Zempel John M JM From the Department of Neurology and Pediatrics (J.M.Z.), Washington University School of Medicine, St. Louis, MO; and Gifu University of Medical Science (T.M.), Seki, Gifu, - - 2014
Myoclonic atonic/astatic epilepsy (MAE), first described well by Doose(1) (pronounced dough sah: http://www.youtube.com/watch?v=hNNiWXV2wF0), is a generalized electroclinical syndrome with early onset characterized by myoclonic, atonic/astatic, generalized tonic-clonic, and absence seizures (but not tonic seizures) in association with generalized spike-wave (GSW) discharges. Thought to have a genetic component that has proven ...
Jhang Kai-Ming - - 2014
Reports on cases of epilepsy in Turner syndrome are rare and most of them have cortical developmental malformations. We report the case of a Taiwanese patient with mosaic Turner syndrome with generalized tonic-clonic epilepsy and asymmetrical lateral ventricles but no apparent cortical anomaly. A 49-year-old Taiwanese woman without family history ...
Cheung K M KM Department of Paediatrics, Caritas Medical Centre, Shamshuipo, Hong - - 2014
A macrocephalic girl presented with generalised epilepsy due to focal cortical dysplasia. She later developed multiple hamartomatous lesions and was diagnosed to have Cowden syndrome. The diagnosis was confirmed by identification of a novel frameshift mutation in the PTEN gene of the patient.
Pavani K K Departments of Dermatology, Venereology and Leprology, Mamata Medical College and General Hospital, Khammam, Andhra Pradesh, - - 2014
Rud's syndrome is a rare autosomal recessive hereditary disorder characterized by congenital ichthyosis, epilepsy, dwarfism, sexual infantilism, polyneuritis, and macrocytic anemia. We report here an interesting case of this disorder in an 18-year-old girl for its rarity and academic interest.
Menon Bindu B Department of Neurology, Narayana Medical College Hospital, Chinthareddypalem, Nellore, Andhra Pradesh, - - 2014
Intracranial dermoids may gradually reach an enormous size before the onset of symptoms. Common clinical presentations of intracranial epidermoid include headache and seizures. We present a case of a 35-year female patient with giant middle fossa epidermoid that presented with Holmes' tremor syndrome, and we review the relevant literature. To ...
Roy Soumyajit S Department of Radiation Oncology, Institute Rotary Cancer Hospital, AIIMS, New Delhi, - - 2014
Posterior reversible encephalopathy syndrome (PRES) is a neuro-radiological syndrome characterized by seizures, altered level of consciousness, visual disturbance, and hyperintense lesions on magnetic resonance imaging most commonly in the posterior regions. PRES is typically associated with a number of complex clinical conditions including: Preeclampsia/eclampsia, allogeneic bone marrow transplantation, solid organ ...
Mittal Kundan K Department of Pediatrics, Pandit Bhagwat Dayal Sharma Postgraduate Insititute of Medical Sciences, Rohtak, Haryana, - - 2014
The Sturge Weber syndrome is characterized by developmental delay, seizures in infancy, unilateral cutaneous lesions with ipsilateral leptomeningeal enhancement. We report an unusual presentation of Sturge Weber syndrome with bilateral port wine nevus on the trunk and face along with bilateral cortical involvement in a developmentally normal child with progressive ...
Liu Sheng-da SD Department of Hyperbaric Oxygen, Beijing Aerospace General Hospital, Beijing 100076, - - 2014
REVERSIBLE posterior leukoencephalopathy syn- drome (RPLS) is a rare neurological syndrome charac- terized by headache, altered mental status, seizures, and visual disturbance, associated with reversible white matter changes.1 It has been commonly reported in patients with severe hypertension and pre-eclampsia. Here we report a case with nephrotic syndrome complicated by ...
Zoric Lepsa - - 2014
Septo-optic dysplasia, also referred to as de Morsier syndrome, is a congenital condition characterized by classic triad features: midline brain abnormalities, optic nerve hypoplasia and pituitary endocrine dysfunction. Sometimes, other various malformations appear within syndrome. An 11 and 1/2-year-old Caucasian Southeast European female patient with earlier established diagnoses of growth ...
Bebek Nerses N Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, - - 2014
The purpose was to document 4 patients with different epilepsy syndromes, showing electrical status epilepticus during sleep (ESES), without marked cognitive and behavioral regression in the long-term follow-up. The mean age at onset of seizures was 8 years. Absences, myoclonic, focal motor, or generalized tonic - clonic seizures and drop ...
Pardo Carlos A CA Department of Neurology, Division of Neuroimmunology and Neuroinfectious Disorders, Center for Pediatric Rasmussen Syndrome, Johns Hopkins University School of Medicine, Baltimore, MD, USA, - - 2014
The mechanisms of epileptogenesis in pediatric epileptic syndromes are diverse, and may involve disturbances of neurodevelopmental trajectories, synaptic homeostasis, and cortical connectivity, which may occur during brain development, early infancy, or childhood. Although genetic or structural/metabolic factors are frequently associated with age-specific epileptic syndromes, such as infantile spasms and West ...
Lechien J R JR Department of Anatomy, Faculty of Medicine, University of Mons, Avenue du Champ de Mars, 6, 7000 Mons, Belgium. Electronic address: - - 2014
Li-Fraumeni syndrome is a rare autosomal dominant cancer-prone condition characterized by the occurrence of a large set of different types of cancer in a patient and their family. A germline disease-causing mutation of the gene encoding the p53 protein is associated with the syndrome. We report on a family in ...
Shetty Jayakara J Tayside Children's Hospital, NHS Tayside, Ninewells Hospital & Medical School, Dundee DD1 9SY, UK. Electronic address: - - 2014
Aicardi syndrome (AS) is a rare neurodevelopmental disorder characterized by the triad of corpus callosum agenesis, chorioretinal lacunae, and infantile spasms. Most patients with AS also have intractable epilepsy, moderate to severe learning disability, and a reduced life expectancy. An X-linked dominant inheritance caused by de novo mutations pattern, lethal ...
Shingade Pravin U PU Department of Medicine, Government Medical College and Hospital, Nagpur, - - 2014
Acute generalized exanthematous pustulosis (AGEP) is a rare drug induced cutaneous hypersensitivity reaction characterized by sudden onset of fever with sterile pustules overlying an erythematous skin occurring all over the body. The offending drugs are usually B-lactams and macrolides. Among anticonvulsants carbamazepine and Phenobarbital are commonly associated with AGEP. Only ...
Hegde Manu M UCSF Epilepsy Center, Department of Neurology, University of California, San Francisco, 521 Parnassus Avenue C-440, San Francisco, CA 94143-0138, - - 2014
Few would experience greater benefit from the development of biomarkers than those who suffer from epilepsy. Both the timing of individual seizures and the overall course of the disease are highly unpredictable, and the associated morbidity is considerable. Thus, there is an urgent need to develop biomarkers that can predict ...
Chopra Ravi R Neuroscience Graduate Program, ; Medical Scientist Training - - 2014
Dravet syndrome (also known as Severe Myoclonic Epilepsy of Infancy) is a rare genetic epilepsy syndrome commonly associated with loss-of-function mutations in SCN1A, the gene encoding the α subunit of the voltage-gated sodium channel NaV1.1, resulting in haploinsufficiency. Like other voltage-gated sodium channels, NaV1.1 function contributes to the rising phase ...
Malbora Baris - - 2014
A 2-year-old girl patient was admitted with intractable diarrhea, respiratory infections, and seizures. She was the first child of the first-degree parents. She was born at term with a birth weight of 2300 g. Physical examination revealed weight 6800 g, height 76 cm, and head circumference 41 cm, below the ...
Sommeling Charlotte C 1Department of Neurology, Ghent University Hospital, Ghent, - - 2014
We present a case of a 16-year-old boy with Klinefelter syndrome who presented with a syndrome of impaired alertness, orofacial dyskinesias, choreiform movements, epileptic seizures, and autonomic instability, pointing to a diagnosis of anti-N-methyl-Daspartate (anti-NMDA) receptor antibody encephalitis.
Jain Puneet P 1Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, - - 2014
Absence seizures associated with myoclonic phenomena have been associated with 4 seizure types. Recently, a new seizure type of neck myoclonia with absences was described. We present a case of 9-year-old girl who presented with abnormal head shaking and vacant stare for the past 5 months with an ictal electroencephalograph ...
Zanni Ginevra G Unit of Molecular Medicine for Neuromuscular and Neurodegenerative disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Electronic address: - - 2014
Mutations in the solute carrier family 9, subfamily A member 6 (SLC9A6) gene, encoding the endosomal Na+/H+ exchanger 6 (NHE6) are associated with Christianson syndrome, a syndromic form of X-linked intellectual disability characterized by microcephaly, severe global developmental delay, autistic behavior, early onset seizures and ataxia. In a 7-year-old boy ...
Gaggero Roberto R Pediatric Unit, San Paolo Hospital, Savona, - - 2014
To evaluate the possibility of early syndrome classification of idiopathic partial epilepsies in children at the first seizure. In this observational study we prospectively evaluated 298 patients, aged between 1 month and 17 years and consecutively referred for the first unprovoked focal seizure. The whole cohort included 133 patients; the ...
Fernández-Torre José L JL Department of Clinical Neurophysiology, Marqués de Valdecilla University Hospital, Santander, Cantabria, Spain; Department of Physiology and Pharmacology, University of Cantabria (UNICAN), Santander, Cantabria, Spain; Instituto de Formación e Investigación Marqués de Valdecilla (IFIMAV), Santander, Spain. Electronic address: - - 2014
The aim of this paper is to describe two additional cases of subacute encephalopathy with seizures in alcoholics (SESA syndrome), and to propose that this entity now should be considered as a subtype of nonconvulsive status epilepticus (NCSE). We retrospectively analyzed the clinical characteristics, electroencephalography (EEG), neuroimaging data, and prognosis ...
Gergont Aleksandra A Department of Neurology of Children and Youth, Jagiellonian University, Collegium Medicum, Krakow, Poland. Electronic address: - - 2014
A syndrome of alternating hemiplegia of childhood (AHC) is a rare disorder first presented in 1971. AHC is characterized by transient episodes of hemiplegia affecting either one or both sides of the body. Age of onset is before 18 months and the common earliest manifestations are dystonic or tonic attacks ...
Conant Kerry D KD Pediatric Epilepsy Program, Massachusetts General Hospital, Boston, Massachusetts, - - 2014
Seizures are common in individuals with duplications of chromosome 15q11.2-q13 (Dup15q). The goal of this study was to examine the phenotypes and treatments of seizures in Dup15q in a large population. A detailed electronic survey was conducted through the Dup15q Alliance containing comprehensive questions regarding seizures and their treatments in ...
Sarasua Sara M SM Office of Bioinformatics and Epidemiology, Greenwood Genetic Center, 101 Gregor Mendel Circle, Greenwood, SC, 29646, USA, - - 2014
This study is the first to describe age-related changes in a large cohort of patients with Phelan-McDermid syndrome (PMS), also known as 22q13 deletion syndrome. Over a follow-up period of up to 12 years, physical examinations and structured interviews were conducted for 201 individuals diagnosed with PMS, 120 patients had a ...
Mastrangelo Mario M Division of Pediatric Neurology, Department of Pediatrics, Child Neurology and Psychiatry, "Sapienza" University of Rome, Via dei Sabelli 108, 00184, Rome, Italy, - - 2014
Febrile seizures (FS) are a benign epileptic manifestation of infancy occurring between 3 months and 5 years of age and affecting an estimated 2-5 % of children. They have usually no important negative effects on motor and cognitive development. Simple FS (generalized seizures, lasting less than 10 min and single episodes during the same ...
Ngim Chin Fang CF Department of Paediatrics, School of Medicine and Health Sciences, Monash University, Johor Bahru, 80100 Johor, - - 2014
A rare syndrome of hypertension, seizures and intracranial bleed has been reported among patients with congenital hemolytic anemia who underwent multiple blood transfusions. We report this syndrome in a 12-year-old Malay girl with hemoglobin E-beta-thalassemia, who underwent intensive transfusion and subsequently had headache, visual loss, severe hypertension and seizures. A ...
Pavlidis Elena E Child Neuropsychiatry Unit, Department of Neuroscience, University of Parma, Parma, Italy. Electronic address: - - 2014
Introduction: Cornelia de Lange syndrome is a rare genetic disease, caused by mutations in three known different genes: NIBPL (crom 5p), SMC1A (crom X) and SMC3 (crom 10q), that account for about 65% of cases. This syndrome is characterized by distinctive facial features, psychomotor delay, growth retardation since the prenatal ...
Miteff Christina I CI 1John Hunter Children's Hospital, New Lambton Heights, New South Wales, - - 2014
We describe a patient with hemiconvulsion-hemiplegia-epilepsy syndrome. The pathophysiology of hemiconvulsion-hemiplegia-epilepsy syndrome remains uncertain and there are probably multiple potential contributing factors. Our patient had a chromosomal 16p13.11 microdeletion that confers susceptibility to various types of epilepsy. This is the first report detailing an association of hemiconvulsion-hemiplegia-epilepsy syndrome with a ...
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