Childrens Hospital Agia Sophia

Athens, Greece

Childrens Hospital Agia Sophia

Athens, Greece

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Galizia E.C.,National Hospital for Neurology and Neurosurgery | Myers C.T.,University of Washington | Leu C.,National Hospital for Neurology and Neurosurgery | De Kovel C.G.F.,University Utrecht | And 52 more authors.
Brain | Year: 2015

Photosensitivity is a heritable abnormal cortical response to flickering light, manifesting as particular electroencephalographic changes, with or without seizures. Photosensitivity is prominent in a very rare epileptic encephalopathy due to de novo CHD2 mutations, but is also seen in epileptic encephalopathies due to other gene mutations. We determined whether CHD2 variation underlies photosensitivity in common epilepsies, specific photosensitive epilepsies and individuals with photosensitivity without seizures. We studied 580 individuals with epilepsy and either photosensitive seizures or abnormal photoparoxysmal response on electroencephalography, or both, and 55 individuals with photoparoxysmal response but no seizures. We compared CHD2 sequence data to publicly available data from 34 427 individuals, not enriched for epilepsy. We investigated the role of unique variants seen only once in the entire data set. We sought CHD2 variants in 238 exomes from familial genetic generalized epilepsies, and in other public exome data sets. We identified 11 unique variants in the 580 individuals with photosensitive epilepsies and 128 unique variants in the 34 427 controls: unique CHD2 variation is over-represented in cases overall (P = 2.17 × 10-5). Among epilepsy syndromes, there was over-representation of unique CHD2 variants (3/36 cases) in the archetypal photosensitive epilepsy syndrome, eyelid myoclonia with absences (P = 3.50 × 10-4). CHD2 variation was not over-represented in photoparoxysmal response without seizures. Zebrafish larvae with chd2 knockdown were tested for photosensitivity. Chd2 knockdown markedly enhanced mild innate zebrafish larval photosensitivity. CHD2 mutation is the first identified cause of the archetypal generalized photosensitive epilepsy syndrome, eyelid myoclonia with absences. Unique CHD2 variants are also associated with photosensitivity in common epilepsies. CHD2 does not encode an ion channel, opening new avenues for research into human cortical excitability. © 2015 The Author (2015). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved.


Speletas M.,University of Thessaly | Mamara A.,University of Thessaly | Papadopoulou-Alataki E.,Aristotle University of Thessaloniki | Iordanakis G.,University of Thessaly | And 4 more authors.
Journal of Clinical Immunology | Year: 2011

TNFRSF13B/TACI defects have recently been associated with common variable immunodeficiency (CVID) pathogenesis. Considering that TNFRSF13B/TACI is very polymorphic and the frequency of its alterations may be different in various ethnic groups, we analyzed their prevalence in 47 Greek patients with antibody deficiencies, including CVID (16 patients), IgAD (16 patients), selective IgG4D (11 patients), and transient hypogammaglobulinemia of infancy (4 patients). A rather high frequency of TNFRSF13B/TACI defects was identified in patients with selective IgG4D (18.18%). Moreover, a patient with CVID was heterozygous in the common C104R mutation (6.25%). Both his children and a further healthy individual carried the same mutation, albeit without recurrent infections and/or hypogammaglobulinemia. The common polymorphisms V220A and P251L were identified in all disease subgroups, in an almost similar frequency with that observed in 259 healthy controls. Our data provide further evidence that TNFRSF13B/TACI alterations are not causative of CVID. Possibly, they predispose to humoral deficiencies and/or contribute to their phenotype when combined with other immune gene alterations. © Springer Science+Business Media, LLC 2011.


Koliofoti E.G.,University of Patras | Gkentzi D.,University of Patras | Varvarigou A.,University of Patras | Trigka M.,University of Patras | Schulpis K.,Childrens Hospital Agia Sophia
Journal of Pediatric Endocrinology and Metabolism | Year: 2014

We present a rare case of galactosemia identified by a positive screening test. A 20-day-old female infant was admitted with jaundice and bloody stained diarrhea. There was no history of fever, convulsions, abdominal distention, or bleeding from other sites. Laboratory findings indicated elevated total billirubin, alanine transaminase, aspartate aminotransferase, alkaline phosphatase, and gamma-glutamyl transferase. International normalized ratio (INR), prothrombin time (PT) and activated partial thromboplastin time (aPTT) were prolonged. Total vitamin D was low. Quantitative assay for GALT in hemolysates of RBC: 17 μmol/min/mg protein (normal values: 20-35) (compound heterozygous for D2/N: 16-19). GALE level in RBC hemolysate: 11.5 μmol/h/g Hb (normal values 19-35). Our patient was homozygous for the peripheral form of epimerase deficiency galactosemia, as well as heterozygous for GALT/(D2) deficiency. She was started on galactose restricted diet and vitamin supplementation. At the age of 10 months, the patient appeared normal with no signs of developmental delay or eye-cataract. © 2014 by De Gruyter.


Covanis A.,Childrens Hospital Agia Sophia
Epilepsia | Year: 2012

Summary Epileptic encephalopathies represent a group of devastating epileptic disorders that appear early in life and are characterized by pharmacoresistant generalized or focal seizures, persistent severe electroencephalography (EEG) abnormalities, and cognitive dysfunction or decline. The ictal and interictal epileptic discharges are age-specific and are the main etiologic factors causing cognitive deterioration. This is most obvious in the idiopathic group. In the symptomatic group, the most common causes are structural, congenital, or acquired and rarely some metabolic disorders. In certain cases, clinical and EEG abnormalities persist and may evolve from one type to another as the child grows older. Various factors trigger and sustain the underlying pathophysiologic process and the ongoing epileptic and epileptiform activity during the most critical periods of brain maturation, perpetuating their deleterious effect on the brain. Immune-mediated mechanisms may have a role, suggested by certain encephalopathies responding to immune-modulating treatments and by the finding of various autoimmune antibodies. The chance of a better cognitive outcome improves with early diagnosis and treatment that is appropriate and effective. Current antiepileptic drugs are, in general, not effective: we urgently need new trials in this very special epileptic category. This article briefly reviews the most common epileptic encephalopathies and analyzes the most important clinical issues. © 2012 International League Against Epilepsy.


Covanis A.,Childrens Hospital Agia Sophia | Guekht A.,Russian National Research Medical University | Li S.,ILAE IBE Global Research Advocacy Task Force | Secco M.,Outreach | And 2 more authors.
Epilepsia | Year: 2015

Tuesday May 26, 2015, will be remembered as an historic day in the fight against epilepsy. On that date, the World Health Assembly approved unanimously the Resolution on the "Global Burden of Epilepsy and the Need for Coordinated Action at the Country Level to Address its Health, Social and Public Knowledge Implications," which urges Member States to implement a coordinated action against epilepsy and its consequences. This event, which comes almost 20 years after the establishment of the Global Campaign against Epilepsy, is another landmark in the longstanding collaboration among the World Health Organization (WHO), the International League Against Epilepsy (ILAE), and the International Bureau for Epilepsy (IBE) in addressing the needs of people with epilepsy. It also acted as a catalyst for other professional societies, including the World Federation of Neurology (WFN), to join forces in promoting a common action against epilepsy. The Resolution did not happen by chance, but came at the end of a long journey that involved the hard and tireless work of many dedicated individuals around the globe. © 2015 International League Against Epilepsy.


PubMed | Russian National Research Medical University, ILAE IBE Global Research Advocacy Task Force, Imperial College London, University of Pavia and 2 more.
Type: Journal Article | Journal: Epilepsia | Year: 2015

Tuesday May 26, 2015, will be remembered as an historic day in the fight against epilepsy. On that date, the World Health Assembly approved unanimously the Resolution on the Global Burden of Epilepsy and the Need for Coordinated Action at the Country Level to Address its Health, Social and Public Knowledge Implications, which urges Member States to implement a coordinated action against epilepsy and its consequences. This event, which comes almost 20 years after the establishment of the Global Campaign against Epilepsy, is another landmark in the longstanding collaboration among the World Health Organization (WHO), the International League Against Epilepsy (ILAE), and the International Bureau for Epilepsy (IBE) in addressing the needs of people with epilepsy. It also acted as a catalyst for other professional societies, including the World Federation of Neurology (WFN), to join forces in promoting a common action against epilepsy. The Resolution did not happen by chance, but came at the end of a long journey that involved the hard and tireless work of many dedicated individuals around the globe.


PubMed | Childrens Hospital Agia Sophia
Type: | Journal: Epilepsia | Year: 2012

Epileptic encephalopathies represent a group of devastating epileptic disorders that appear early in life and are characterized by pharmacoresistant generalized or focal seizures, persistent severe electroencephalography (EEG) abnormalities, and cognitive dysfunction or decline. The ictal and interictal epileptic discharges are age-specific and are the main etiologic factors causing cognitive deterioration. This is most obvious in the idiopathic group. In the symptomatic group, the most common causes are structural, congenital, or acquired and rarely some metabolic disorders. In certain cases, clinical and EEG abnormalities persist and may evolve from one type to another as the child grows older. Various factors trigger and sustain the underlying pathophysiologic process and the ongoing epileptic and epileptiform activity during the most critical periods of brain maturation, perpetuating their deleterious effect on the brain. Immune-mediated mechanisms may have a role, suggested by certain encephalopathies responding to immune-modulating treatments and by the finding of various autoimmune antibodies. The chance of a better cognitive outcome improves with early diagnosis and treatment that is appropriate and effective. Current antiepileptic drugs are, in general, not effective: we urgently need new trials in this very special epileptic category. This article briefly reviews the most common epileptic encephalopathies and analyzes the most important clinical issues.

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