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https://www.readbyqxmd.com/read/29453776/syndromic-sebaceous-nevus-current-findings
#1
Oumama El Ezzi, Anthony S de Buys Roessingh, Michèle Bigorre, Guillaume Captier
BACKGROUND: Sebaceous nevus is a congenital malformation of the skin that usually occurs on the scalp or face. Syndromic forms do rarely exist with associated cerebral and ocular malformations. The skin lesions are pale at birth and become irregular by puberty. In the adult patient, tumors (usually benign) develop from sebaceous nevus. Their surgical excision during childhood can give a better result in terms of the definitive scar. OBJECTIVES: The aim of this study is to analyze our cases of syndromic sebaceous hamartoma, perform a review of the existing literature, and propose guidelines for the therapeutic plan...
February 16, 2018: International Journal of Dermatology
https://www.readbyqxmd.com/read/29453113/epidemiological-profile-of-epilepsy-in-low-income-populations
#2
REVIEW
Camilo Espinosa-Jovel, Rafael Toledano, Ángel Aledo-Serrano, Irene García-Morales, Antonio Gil-Nagel
Epilepsy is a global disease with an unequal distribution. About 80% of the affected individuals reside in low and middle income countries. The incidence and prevalence of epilepsy in low income populations is higher than in the rest of the world, this is partly explained by some risk factors such as head trauma, perinatal injury and CNS infections, which are more common in poor regions, especially in rural areas. Epilepsy is considered a treatable condition with high rates of therapeutic response. About three fourths of patients achieve control of the disease with the use of antiepileptic drugs, however, despite this benign prognosis, over 75% of patients from low income populations do not receive treatment at all...
February 8, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29449828/understanding-spreading-depression-from-headache-to-sudden-unexpected-death
#3
REVIEW
Olga Cozzolino, Maria Marchese, Francesco Trovato, Enrico Pracucci, Gian Michele Ratto, Maria Gabriella Buzzi, Federico Sicca, Filippo M Santorelli
Spreading depression (SD) is a neurophysiological phenomenon characterized by abrupt changes in intracellular ion gradients and sustained depolarization of neurons. It leads to loss of electrical activity, changes in the synaptic architecture, and an altered vascular response. Although SD is often described as a unique phenomenon with homogeneous characteristics, it may be strongly affected by the particular triggering event and by genetic background. Furthermore, SD may contribute differently to the pathogenesis of widely heterogeneous clinical conditions...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29432985/a-relatively-mild-phenotype-associated-with-mutation-of-scn8a
#4
Irene Bagnasco, Patrizia Dassi, Roberta Blé, Piernanda Vigliano
Mutations in SCN8A gene have been described in relation to infantile onset epilepsy with movement disorders and developmental delay. Recently various authors have reported patients carrying autosomal dominant heterozygous SCN8A mutations and a milder phenotype expression. We discuss the case of a 6-year-old girl with a positive family history for epilepsy, early benign focal epilepsy, well controlled by Carbamazepine, upper limb tremor since birth, ataxia, slight motor delay and normal cognitive development...
February 7, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29432243/epilepsy-syndromes-in-childhood
#5
Phillip L Pearl
PURPOSE OF REVIEW: Epilepsy syndromes are an important clinical construct in pediatric epilepsy, as they encompass recognizable patterns seen in patients with epilepsies, whether of the more benign variety or associated with encephalopathy. RECENT FINDINGS: Syndromes may be organized by age of onset: neonatal, infantile, childhood, or adolescent. The assignment of a syndrome has specific implications for diagnosis, management, and prognostication. The 2010 revised classification of the epilepsies by the International League Against Epilepsy preserved the syndrome approach, while progress in genetics continues to advance our understanding of the pathophysiology and overlap of the epilepsy syndromes...
February 2018: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/29426807/neonatal-epilepsy-genetics
#6
REVIEW
Erika J T Axeen, Heather E Olson
Neonatal epilepsy genetics is a rapidly expanding field with recent technological advances in genomics leading to an expanding list of genetic disorders associated with neonatal-onset epilepsy. The genetic causes of neonatal epilepsy can be grouped into the following categories: (i) malformations of cortical development, (ii) genetic-metabolic, (iii) genetic-vascular, (iv) genetic-syndromic, and (v) genetic-cellular. Clinically, epilepsy in the neonate shows phenotypic overlap with pathogenic variants in unrelated genes causing similar clinical presentation (locus heterogeneity) and variants in the same gene leading to a wide clinical spectrum ranging from benign familial neonatal seizures to more severe epileptic encephalopathies (variable expressivity)...
January 31, 2018: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29416935/familial-cortical-myoclonic-tremor-and-epilepsy-an-enigmatic-disorder-from-phenotypes-to-pathophysiology-and-genetics-a-systematic-review
#7
REVIEW
Tom van den Ende, Sarvi Sharifi, Sandra M A van der Salm, Anne-Fleur van Rootselaar
Background: Autosomal dominant familial cortical myoclonic tremor and epilepsy (FCMTE) is characterized by distal tremulous myoclonus, generalized seizures, and signs of cortical reflex myoclonus. FCMTE has been described in over 100 pedigrees worldwide, under several different names and acronyms. Pathological changes have been located in the cerebellum. This systematic review discusses the clinical spectrum, treatment, pathophysiology, and genetic findings. Methods: We carried out a PubMed search, using a combination of the following search terms: cortical tremor, myoclonus, epilepsy, benign course, adult onset, familial, and autosomal dominant; this resulted in a total of 77 studies (761 patients; 126 pedigrees) fulfilling the inclusion and exclusion criteria...
2018: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29398625/brain-responses-to-auditory-oddball-task-in-children-with-benign-childhood-epilepsy-with-centrotemporal-spikes-quantitative-analysis-and-correlation-with-neuropsychological-assessment-scores
#8
Mostafa M Elkholy, Asmaa M Ebraheim, Neveen M ElFayoumy
OBJECTIVE: Variable degrees of cognitive dysfunction have been reported in children with benign childhood epilepsy with centrotemporal spikes (BCECTS). Our aim was to perform quantitative analyses of the brain responses to cognitive tasks using event-related desynchronization (ERD) and event-related synchronization (ERS) and correlating the results with the scores of neuropsychological tests in patients with BCECTS. METHODS: This case control study included 30 patients with BCECTS and 20 controls...
February 2, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29383681/kv7-3-compound-heterozygous-variants-in-early-onset-encephalopathy-reveal-additive-contribution-of-c-terminal-residues-to-pip2-dependent-k-channel-gating
#9
Paolo Ambrosino, Elena Freri, Barbara Castellotti, Maria Virginia Soldovieri, Ilaria Mosca, Laura Manocchio, Cinzia Gellera, Laura Canafoglia, Silvana Franceschetti, Barbara Salis, Nunzio Iraci, Francesco Miceli, Francesca Ragona, Tiziana Granata, Jacopo C DiFrancesco, Maurizio Taglialatela
Over one hundred mutations in the Kv7.2 (KCNQ2) gene encoding for phosphatidylinositol 4,5-bisphosphate (PIP2)-sensitive voltage-gated K+ channel subunits have been identified in early-onset epilepsies with wide phenotypic variability. By contrast, only few mutations in the closely related Kv7.3 (KCNQ3) gene have been reported, mostly associated with typical benign familial neonatal seizures (BFNS). We herein describe a patient affected by early onset epileptic encephalopathy (EOEE) carrying two Kv7.3 missense mutations (p...
January 30, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29378663/early-diagnosis-of-tuberous-sclerosis-complex-a-race-against-time-how-to-make-the-diagnosis-before-seizures
#10
Monika Słowińska, Sergiusz Jóźwiak, Angela Peron, Julita Borkowska, Dariusz Chmielewski, Krzysztof Sadowski, Elżbieta Jurkiewicz, Aglaia Vignoli, Francesca La Briola, Maria Paola Canevini, Katarzyna Kotulska-Jóźwiak
BACKGROUND: Tuberous sclerosis complex (TSC) is a genetic disorder with an incidence of 1:6000 live births and associated with the development of benign tumors in several organs. It is also characterized by high rates of neurological and neuropsychiatric abnormalities, including epilepsy affecting 70-90% of patients and being one of the major risk factors of intellectual disability. The first seizures in TSC patients appear usually between the 4th and the 6th months of life. Recent studies have shown the beneficial role of preventative antiepileptic treatment in TSC patients, with the possibility for improvement of cognitive outcome...
January 29, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29375952/primary-cardiac-high-grade-myxofibrosarcoma-presenting-with-multiple-brain-metastases-a-case-report
#11
Filippo Badaloni, Eugenio Pozzati, Gianluca Marucci, Pietro Fiaschi, Antonio Fioravanti
Herein we describe the case of a young patient who presented with a recent history of epilepsy due to multiple brain lesions; he did not complain about any cardiopulmonary impairments. The patient died as a consequence of hemorrhagic progression of brain metastatic disease. Regardless of a thorough investigation, the heart tumor remained occult. Primary cardiac tumors are very rare entities. Most of these are benign, but approximately 25% are malignant, and the majority of these are sarcomas. Myxofibrosarcoma and osteosarcoma are exceptionally rare...
November 21, 2017: Curēus
https://www.readbyqxmd.com/read/29330545/de-novo-bk-channel-variant-causes-epilepsy-by-affecting-voltage-gating-but-not-ca2-sensitivity
#12
Xia Li, Sibylle Poschmann, Qiuyun Chen, Walid Fazeli, Nelly Jouayed Oundjian, Francesca M Snoeijen-Schouwenaars, Oliver Fricke, Erik-Jan Kamsteeg, Marjolein Willemsen, Qing Kenneth Wang
Epilepsy is one of the most common neurological diseases and it causes profound morbidity and mortality. We identified the first de novo variant in KCNMA1 (c.2984 A > G (p.(N995S)))-encoding the BK channel-that causes epilepsy, but not paroxysmal dyskinesia, in two independent families. The c.2984 A > G (p.(N995S)) variant markedly increased the macroscopic potassium current by increasing both the channel open probability and channel open dwell time. The c.2984 A > G (p.(N995S)) variant did not affect the calcium sensitivity of the channel...
January 12, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29295801/prevalence-of-idiopathic-epilepsy-among-school-children-in-gharbia-governorate-egypt
#13
Azza Kamal Alshahawy, Amira Hamed Darwish, Safynaz Elsaid Shalaby, Wegdan Mawlana
BACKGROUND: Epilepsy is one of the most common neurological disorders among children. Data about its prevalence in Egypt is limited. Our aim was to study the prevalence of idiopathic epilepsy among school children in Gharbia governorate, Egypt. SUBJECTS AND METHODS: A Cross-sectional school-based survey study was conducted; a validated screening questionnaire was distributed among urban and rural primary and preparatory school children. Students with suspected epilepsy were subjected to clinical evaluation, Electroencephalogram (EEG), and neuroimaging...
December 30, 2017: Brain & Development
https://www.readbyqxmd.com/read/29288854/lesional-temporal-lobe-epilepsy-beware-the-deceitful-panic-attack
#14
Kay O Kulason, Julia R Schneider, Ralph Rahme, Bidyut Pramanik, Derek Chong, John A Boockvar
BACKGROUND: Ganglioglioma is a rare, benign, intraaxial glioneuronal tumor, but a relatively common cause of pharmacoresistant temporal lobe epilepsy (TLE). Given its often nonspecific neuropsychiatric manifestations and frequently negative electroencephalographic workup, TLE can be easily misdiagnosed as a psychiatric disorder, particularly panic attacks. CASE DESCRIPTION: We present a case of a 17-year old boy who was found to have lesional TLE secondary to a left temporal ganglioglioma, 5 years after having been misdiagnosed with panic disorder and undergone ineffective and unnecessary psychotherapy...
December 27, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29277263/genetics-of-human-epilepsies-continuing-progress
#15
Pierre Szepetowski
Numerous epilepsy genes have been identified in the last years, mostly in the (rare) monogenic forms and thanks to the increased availability and the decreased cost of next-generation sequencing approaches. Besides the somehow expected group of epilepsy genes encoding various ion channel subunits (e.g. sodium or potassium channel subunits, or GABA receptors, or glutamate-gated NMDA receptors), more diversity has emerged recently, with novel epilepsy genes encoding proteins playing a wide range of physiological roles at the cellular and molecular levels, such as synaptic proteins, members of the mTOR pathway, or proteins involved in chromatin remodeling...
December 22, 2017: La Presse Médicale
https://www.readbyqxmd.com/read/29229893/prognostic-factors-for-epilepsy-following-first-febrile-seizure-in-saudi-children
#16
Abdullah I Almojali, Anwar E Ahmed, Muhammed Y Bagha
BACKGROUND: Febrile seizure is the most common convulsive event during childhood, but it is generally considered benign. OBJECTIVES: To estimate the rate of epilepsy after first presentation of febrile seizure and to describe factors that can predispose children to have subsequent epilepsy after their first febrile seizure. DESIGN: Retrospective chart review. SETTING: A tertiary care center in Riyadh. PATIENTS AND METHODS: All children whose first febrile seizure developed between 2009-2012, and who were admitted to the pediatric wards...
November 2017: Annals of Saudi Medicine
https://www.readbyqxmd.com/read/29215089/genetic-analysis-of-benign-familial-epilepsies-in-the-first-year-of-life-in-a-chinese-cohort
#17
Qi Zeng, Xiaoling Yang, Jing Zhang, Aijie Liu, Zhixian Yang, Xiaoyan Liu, Ye Wu, Xiru Wu, Liping Wei, Yuehua Zhang
Benign familial epilepsies that present themselves in the first year of life include benign familial neonatal epilepsy (BFNE), benign familial neonatal-infantile epilepsy (BFNIE) and benign familial infantile epilepsy (BFIE). We used Sanger sequencing and targeted next-generation sequencing to detect gene mutations in a Chinese cohort of patients with these three disorders. A total of 79 families were collected, including 4 BFNE, 7 BFNIE, and 68 BFIE. Genetic testing led to the identification of gene mutations in 60 families (60 out of 79, 75...
November 13, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29213044/-the-course-and-development-of-epilepsy-in-patients-with-typical-variant-of-rett-syndrome-and-mutations
#18
M Yu Bobylova, I V Ivanova, I V Nekrasova, O A Pylaeva, K Yu Mukhin, A A Kholin, Ek S Iljina, A V Kulikov, El S Iljina, Yu E Nesterovsky
AIM: To study the anamnesis, clinical state, electro-encephalographic and brain MRI characteristics in patients with Rett syndrome (МЕСР2) and epilepsy. MATERIAL AND METHODS: Eleven female patients, aged from 3 to 23 years, with Rett syndrome and MeCP2 mutations were studied. The study continued for 10 years (2006-2015). Assessment of neurological and mental status, night sleep video-EEG monitoring, MRI were performed. RESULTS AND CONCLUSION: Epilepsy was diagnosed in six cases (54...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/29208197/-treatment-of-rolandic-epilepsy
#19
Maria Jose Miranda, Banoo Bakir Ahmad
Recent literature indicates, that rolandic epilepsy/epilepsy of childhood with centrotemporal spikes may not be as benign as previously assumed. This study investigates the existing evidence, which describes the treatment effects on seizure frequency as well as improvement of cognition in children with rolandic epilepsy. We conclude, that treatment with anti-epileptic drugs could be justified, if treatment reduces seizures, prevents the evolution to atypical forms, or diminishes the negative cognitive consequences associated with the disease...
November 27, 2017: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/29206330/differential-patterns-of-dynamic-functional-connectivity-variability-of-striato-cortical-circuitry-in-children-with-benign-epilepsy-with-centrotemporal-spikes
#20
Rong Li, Wei Liao, Yangyang Yu, Heng Chen, Xiaonan Guo, Ye-Lei Tang, Huafu Chen
Benign epilepsy with centrotemporal spikes (BECTS) is characterized by abnormal (static) functional interactions among cortical and subcortical regions, regardless of the active or chronic epileptic state. However, human brain connectivity is dynamic and associated with ongoing rhythmic activity. The dynamic functional connectivity (dFC) of the distinct striato-cortical circuitry associated with or without interictal epileptiform discharges (IEDs) are poorly understood in BECTS. Herein, we captured the pattern of dFC using sliding window correlation of putamen subregions in the BECTS (without IEDs, n = 23; with IEDs, n = 20) and sex- and age-matched healthy controls (HCs, n = 28) during rest...
December 5, 2017: Human Brain Mapping
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