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Epilepsy in childhood

Jodi L Pawluski, Mathieu Kuchenbuch, Sarah Hadjadj, Gabriel Dieuset, Nathalie Costet, Laurent Vercueil, Arnaud Biraben, Benoît Martin
Childhood absence epilepsy (CAE) is one of the most frequent epilepsies in infancy. The first-line recommended therapy for CAE is based on the prescription of the narrow-spectrum ethosuximide and the broad-spectrum valproic acid, which have similar efficacy in the first 12 months. Nevertheless, some antiepileptic drugs (AEDs) may worsen seizure duration and type in this syndrome. In line with this, we have encountered a case of identical twins with CAE and early exposure to different antiseizure drugs leading to divergent outcomes...
June 14, 2018: Epilepsia
Andres M Kanner, Eric Ashman, David Gloss, Cynthia Harden, Blaise Bourgeois, Jocelyn F Bautista, Bassel Abou-Khalil, Evren Burakgazi-Dalkilic, Esmeralda Llanas Park, John Stern, Deborah Hirtz, Mark Nespeca, Barry Gidal, Edward Faught, Jacqueline French
OBJECTIVE: To update the 2004 American Academy of Neurology guideline for managing treatment-resistant (TR) epilepsy with second- and third-generation antiepileptic drugs (AEDs). METHODS: 2004 criteria were used to systemically review literature (January 2003 to November 2015), classify pertinent studies according to the therapeutic rating scheme, and link recommendations to evidence strength. RESULTS: Forty-two articles were included. RECOMMENDATIONS: The following are established as effective to reduce seizure frequency (Level A): immediate-release pregabalin and perampanel for TR adult focal epilepsy (TRAFE); vigabatrin for TRAFE (not first-line treatment); rufinamide for Lennox-Gastaut syndrome (LGS) (add-on therapy)...
June 13, 2018: Neurology
Andres M Kanner, Eric Ashman, David Gloss, Cynthia Harden, Blaise Bourgeois, Jocelyn F Bautista, Bassel Abou-Khalil, Evren Burakgazi-Dalkilic, Esmeralda Llanas Park, John Stern, Deborah Hirtz, Mark Nespeca, Barry Gidal, Edward Faught, Jacqueline French
OBJECTIVE: To update the 2004 American Academy of Neurology (AAN) guideline for treating new-onset focal or generalized epilepsy with second- and third-generation antiepileptic drugs (AEDs). METHODS: The 2004 AAN criteria were used to systematically review literature (January 2003-November 2015), classify pertinent studies according to the therapeutic rating scheme, and link recommendations to evidence strength. RESULTS: Several second-generation AEDs are effective for new-onset focal epilepsy...
June 13, 2018: Neurology
Manuela Priolo, Denny Schanze, Katrin Tatton-Brown, Paul A Mulder, Jair Tenorio, Kreepa Kooblall, Inés Hernández Acero, Fowzan S Alkuraya, Pedro Arias, Laura Bernardini, Emilia K Bijlsma, Trevor Cole, Christine Coubes, Irene Dapia, Sally Davies, Nataliya Di Donato, Nursel H Elcioglu, Jill A Fahrner, Alison Foster, Noelia García González, Ilka Huber, Maria Iascone, Ann-Sophie Kaiser, Arveen Kamath, Jan Liebelt, Sally Ann Lynch, Saskia M Maas, Corrado Mammì, Inge B Mathijssen, Shane McKee, Leonie A Menke, Ghayda M Mirzaa, Tara Montgomery, Dorothee Neubauer, Thomas E Neumann, Letizia Pintomalli, Maria Antonietta Pisanti, Astrid S Plomp, Sue Price, Claire Salter, Fernando Santos-Simarro, Pierre Sarda, Mabel Segovia, Charles Shaw-Smith, Sarah Smithson, Mohnish Suri, Rita Maria Valdez, Arie Van Haeringen, Johanna M Van Hagen, Marcela Zollino, Pablo Lapunzina, Rajesh V Thakker, Martin Zenker, Raoul C Hennekam
Malan syndrome is an overgrowth disorder described in a limited number of individuals. We aim to delineate the entity by studying a large group of affected individuals. We gathered data on 45 affected individuals with a molecularly confirmed diagnosis through an international collaboration and compared data to the 35 previously reported individuals. Results indicate that height is > 2 SDS in infancy and childhood but in only half of affected adults. Cardinal facial characteristics include long, triangular face, macrocephaly, prominent forehead, everted lower lip and prominent chin...
June 13, 2018: Human Mutation
Ping Qian, Xiaoling Yang, Xiaojing Xu, Xiaoyan Liu, Yuehua Zhang, Zhixian Yang
OBJECTIVE: To detect potential mutations of the glutamate receptor subunit (GRIN2A) gene and delineate the clinical-genetic characteristics of patients with epilepsy-aphasia spectrum (EAS) disorders. METHODS: One hundred twenty two patients with Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike-and-wave during sleep (CSWS), benign childhood epilepsy with centrotemporal spikes (BECT) and BECT variants were recruited. Potential mutations of the GRIN2A gene were screened with Sanger sequencing...
June 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Soheir S Abou El Ella, Maha Atef Tawfik, Wafaa Moustafa M Abo El Fotoh, Omar Ahmed M Soliman
PURPOSE: Previous studies have suggested that GABARG2 (Gamma-Aminobutyric acid type A Receptor Gamma 2 subunit) could be a gene of interest in genetic epilepsy; through possible associations with increased epilepsy susceptibility or resistance to antiepileptic drugs. The present study was designed to explore whether the GABARG2 C588 T (rs211037) genetic variant predicts susceptibility to epilepsy and pharmacoresistance among Egyptian children with Idiopathic Generalized Epilepsy (IGE)...
June 6, 2018: Seizure: the Journal of the British Epilepsy Association
Arsen S Hunanyan, Ashley R Helseth, Elie Abdelnour, Bassil Kherallah, Monisha Sachdev, Leeyup Chung, Melanie Masoud, Jordan Richardson, Qiang Li, J Victor Nadler, Scott D Moore, Mohamad A Mikati
OBJECTIVE: Na+ /K+ -ATPase dysfunction, primary (mutation) or secondary (energy crisis, neurodegenerative disease) increases neuronal excitability in the brain. To evaluate the mechanisms underlying such increased excitability we studied mice carrying the D801N mutation, the most common mutation causing human disease, specifically alternating hemiplegia of childhood (AHC) including epilepsy. Because the gene is expressed in all neurons, particularly γ-aminobutyric acid (GABA)ergic interneurons, we hypothesized that the pathophysiology would involve both pyramidal cells and interneurons and that fast-spiking interneurons, which have increased firing rates, would be most vulnerable...
June 11, 2018: Epilepsia
Tomoe Yanagishita, Susumu Ito, Yui Ohtani, Kaoru Eto, Takashi Kanbayashi, Hirokazu Oguni, Satoru Nagata
Narcolepsy is characterized by excessive sleepiness, hypnagogic hallucinations, and sleep paralysis, and can occur with or without cataplexy. Here, we report two children with narcolepsy presenting with cataplexy mimicking epileptic seizures as determined by long-term video-electroencephalography (EEG) and electromyography (EMG) monitoring. Case 1 was a 15-year-old girl presenting with recurrent episodes of "convulsions" and loss of consciousness, who was referred to our hospital with a diagnosis of epilepsy showing "convulsions" and "complex partial seizures"...
June 6, 2018: Brain & Development
Falucar Njuieyon, Emma Cuadro-Alvarez, Elise Martin, Noémie Lachaume, Yajaira Mrsic, Fanny Henaff, Chimène Maniassom, Antoine Defo, Narcisse Elenga
BACKGROUND: This study aims to describe the predictive factors of severe obesity in children followed in French Guiana. METHODS: In this observational study, the patients from the French Guianese Childhood Obesity Group database were prospectively included, after giving a statement of patient's non opposition. RESULTS: Our group classifications revealed that 36 of 150 (24%) participants were classified as being metabolically abnormal obesity" (MAO), while 114 of 150 (76%) were categorized as metabolically normal obesity" (MNO)...
June 9, 2018: BMC Pediatrics
Stephanie L Rogers, Elyse Rankin-Gee, Rashmi M Risbud, Brenda E Porter, Eric D Marsh
The perineuronal net (PN), a highly organized extracellular matrix structure, is believed to play an important role in synaptic function, including maturation and stabilization. In addition to its role in restricting plasticity, alterations in the PN are implicated in disorders such as epilepsy and schizophrenia. However, the time course of PN development is not known in humans. Therefore we set out to document the developmental timeline of the PN formation in humans in 14 frontal and hippocampal specimens from donors aged 27 days to 31 years old...
June 6, 2018: Neuroscience
Rael Laugesaar, Ulvi Vaher, Silva Lõo, Anneli Kolk, Mairi Männamaa, Inga Talvik, Eve Õiglane-Shlik, Dagmar Loorits, Tiina Talvik, Pilvi Ilves
Objective: With an incidence up to 63 per 100,000 live births, perinatal stroke is an important cause of childhood epilepsy. The aim of the study was to find the prevalence of and predictive factors for epilepsy, and to describe the course of epilepsy in children with perinatal stroke with different vascular subtypes. Methods: Patients were retrieved from the Estonian Paediatric Stroke Database with follow-up time at least 24 months. Patients were divided into 5 perinatal stroke syndromes: neonatal arterial ischemic stroke (AIS), neonatal hemorrhagic stroke, neonatal cerebral sinovenous thrombosis, presumed AIS, and presumed periventricular venous infarction...
June 2018: Epilepsia Open
Eric H Kossoff, Beth A Zupec-Kania, Stéphane Auvin, Karen R Ballaban-Gil, A G Christina Bergqvist, Robyn Blackford, Jeffrey R Buchhalter, Roberto H Caraballo, J Helen Cross, Maria G Dahlin, Elizabeth J Donner, Orkide Guzel, Rana S Jehle, Joerg Klepper, Hoon-Chul Kang, Danielle A Lambrechts, Y M Christiana Liu, Janak K Nathan, Douglas R Nordli, Heidi H Pfeifer, Jong M Rho, Ingrid E Scheffer, Suvasini Sharma, Carl E Stafstrom, Elizabeth A Thiele, Zahava Turner, Maria M Vaccarezza, Elles J T M van der Louw, Pierangelo Veggiotti, James W Wheless, Elaine C Wirrell
Ketogenic dietary therapies (KDTs) are established, effective nonpharmacologic treatments for intractable childhood epilepsy. For many years KDTs were implemented differently throughout the world due to lack of consistent protocols. In 2009, an expert consensus guideline for the management of children on KDT was published, focusing on topics of patient selection, pre-KDT counseling and evaluation, diet choice and attributes, implementation, supplementation, follow-up, side events, and KDT discontinuation. It has been helpful in outlining a state-of-the-art protocol, standardizing KDT for multicenter clinical trials, and identifying areas of controversy and uncertainty for future research...
June 2018: Epilepsia Open
Jean Chemin, Karine Siquier-Pernet, Michaël Nicouleau, Giulia Barcia, Ali Ahmad, Daniel Medina-Cano, Sylvain Hanein, Nami Altin, Laurence Hubert, Christine Bole-Feysot, Cécile Fourage, Patrick Nitschké, Julien Thevenon, Marlène Rio, Pierre Blanc, Céline Vidal, Nadia Bahi-Buisson, Isabelle Desguerre, Arnold Munnich, Stanislas Lyonnet, Nathalie Boddaert, Emily Fassi, Marwan Shinawi, Holly Zimmerman, Jeanne Amiel, Laurence Faivre, Laurence Colleaux, Philippe Lory, Vincent Cantagrel
Cerebellar atrophy is a key neuroradiological finding usually associated with cerebellar ataxia and cognitive development defect in children. Unlike the adult forms, early onset cerebellar atrophies are classically described as mostly autosomal recessive conditions and the exact contribution of de novo mutations to this phenotype has not been assessed. In contrast, recent studies pinpoint the high prevalence of pathogenic de novo mutations in other developmental disorders such as intellectual disability, autism spectrum disorders and epilepsy...
June 5, 2018: Brain: a Journal of Neurology
Chittaranjan Andrade
Valproate and formulations thereof are approved for the management of seizure disorders, bipolar disorder, and migraine. Valproate is also used for many off-label indications. Unfortunately, data from observational studies indicate that valproate is perhaps the most teratogenic drug in the neuropsychiatric pharmacopeia. It is significantly more teratogenic than many other antiepileptic drugs (AEDs). In observational studies, gestational exposure to valproate is also associated with higher risks of cognitive, language, and psychomotor delay during early childhood and possibly with an increased risk of autism, as well...
May 29, 2018: Journal of Clinical Psychiatry
Amerins Weijenberg, Margreet van Rijn, Petra M C Callenbach, Tom J de Koning, Oebele F Brouwer
Background: Ketogenic diet in children with epilepsy has a considerable impact on daily life and is usually adopted for at least 3 months. Our aim was to evaluate whether the introduction of an all-liquid ketogenic diet in an outpatient setting is feasible, and if an earlier assessment of its efficacy can be achieved. Methods: The authors conducted a prospective, observational study in a consecutive group of children with refractory epilepsy aged 2 to 14 years indicated for ketogenic diet...
2018: Child Neurology Open
Jan Dirk Blom, Esmeralda Mangoenkarso
Background: Sexual hallucinations are probably the most neglected types of hallucination, even in psychiatric settings. They are often multimodal in nature, and their prevalence rate is unknown. For other types of hallucination, notably auditory hallucinations, childhood trauma is an important risk factor. However, whether this also applies to sexual hallucinations is unexplored. Objective: To establish the prevalence rate of sexual hallucinations in a clinical sample of patients diagnosed with a schizophrenia spectrum disorder, to describe their phenomenological characteristics, and to estimate their relationship with childhood trauma...
2018: Frontiers in Psychiatry
Yanyan Mao, Linda Juel Ahrenfeldt, Kaare Christensen, Chunsen Wu, Jakob Christensen, Jørn Olsen, Yuelian Sun
BACKGROUND: There is a complex interaction between female and male sex hormones and the risk of epilepsy. Whether prenatal exposure to higher levels of sex hormones affects the development of epilepsy in childhood or later in life is not well known. The sex hormone environment of fetuses may be affected by the sex of the co-twin. We estimated the risk of epilepsy for twins with an opposite-sex (OS) co-twin compared with twins with a same-sex (SS) co-twin. METHODS: From the Danish Twin Registry, we identified OS female twins (n = 11,078), SS female twins (n = 19,186), OS male twins (n = 11,080), and SS male twins (n = 20,207) born between 1977 and 2009...
June 4, 2018: Biology of Sex Differences
Yu E Nesterovsky, N N Zavadenko
Migraine and epilepsy represent prevalent chronic neurological disorders of childhood. Migraine and epilepsy comorbidity relies on the common pathophysiologic and genetic mechanisms of the paroxysmal disorders the similarity of their precipitating factors, clinical manifestations and therapeutic approaches. The problems of differential diagnosis of migraine and epilepsy are related to peculiarities of migraine manifestations in children. Some forms of epilepsy could be accompanied by cephalgic seizures. The diagnostic criteria of headaches in epileptic patients are presented...
2018: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
Kadi Veri, Inga Talvik, Ulvi Vaher, Aita Napa, Pilvi Ilves, Oivi Uibo, Eve Õiglane-Shlik, Rael Laugesaar, Reet Rein, Anneli Kolk, Klari Noormets, Tiia Reimand, Katrin Õunap, Tiina Talvik
The aim of this prospective epidemiological study was to establish the incidence rate of childhood epilepsy in Estonia, to describe the clinical spectrum and to identify etiology of childhood epilepsy. The overall incidence rate was 86.3/100 000. The incidence rate was the highest (141.9/100 000) in the age group from 5 to 9 years. Specific electroclinical syndromes were identified in 22.8% of cases. Structural or metabolic etiology was identified in 20.0% of cases, presumed genetic origin was identified in 33...
January 1, 2018: Journal of Child Neurology
Pauline Marzin, Cyril Mignot, Nathalie Dorison, Louis Dufour, Dorothée Ville, Anna Kaminska, Eleni Panagiotakaki, Anne-Sophie Dienpendaele, Marie-José Penniello, Marie-Christine Nougues, Boris Keren, Christel Depienne, Caroline Nava, Mathieu Milh, Laurent Villard, Christian Richelme, Clotilde Rivier, Sandra Whalen, Delphine Heron, Gaëtan Lesca, Diane Doummar
OBJECTIVE: Heterozygous mutations in the ATP1A3 gene are responsible for various neurological disorders, ranging from early-onset alternating hemiplegia of childhood to adult-onset dystonia-parkinsonism. Next generation sequencing allowed the description of other phenotypes, including early-onset epileptic encephalopathy in two patients. We report on three more patients carrying ATP1A3 mutations with a close phenotype and discuss the relationship of this phenotype to alternating hemiplegia of childhood...
May 31, 2018: Brain & Development
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