Search Results - "European journal of paediatric neurology"

Cerebral Plasticity: Windows of opportunity in the developing brain by Ismail, Fatima Yousif, Fatemi, S. Ali, Johnston, Michael V

“…Abstract Neuroplasticity refers to the inherently dynamic biological capacity of the central nervous system (CNS) to undergo maturation, change structurally…”
Get full text

Management of epilepsy associated with tuberous sclerosis complex: Updated clinical recommendations by Curatolo, Paolo, Nabbout, Rima, Lagae, Lieven, Aronica, Eleonora, Ferreira, Josè Carlos, Feucht, Martha, Hertzberg, Christoph, Jansen, Anna C., Jansen, Floor, Kotulska, Katarzyna, Moavero, Romina, O'Callaghan, Finbar, Papavasiliou, Antigone, Tzadok, Michal, Jóźwiak, Sergiusz

“…Patients with tuberous sclerosis complex (TSC) are at very high risk for developing epilepsy, and the majority experience seizure onset during the first year…”
Get full text

Deciphering the concepts behind “Epileptic encephalopathy” and “Developmental and epileptic encephalopathy” by Scheffer, Ingrid E., Liao, Jianxiang

“…The recent introduction of the term ‘developmental and epileptic encephalopathy’ by the International League Against Epilepsy has added another conceptual…”
Get full text

E.U. paediatric MOG consortium consensus: Part 1 – Classification of clinical phenotypes of paediatric myelin oligodendrocyte glycoprotein antibody-associated disorders by Bruijstens, Arlette L., Lechner, Christian, Flet-Berliac, Lorraine, Deiva, Kumaran, Neuteboom, Rinze F., Hemingway, Cheryl, Wassmer, Evangeline, Mog consortium, E.U. paediatric, Bruijstens, Arlette L., Wendel, Eva-Maria, Lechner, Christian, Breu, Markus, Flet-Berliac, Lorraine, de Chalus, Aliénor, Capobianco, Marco, Laetitia, Giorgi, Hemingway, Cheryl, Wassmer, Evangeline, Lim, Ming, Wickström, Ronny, Armangue, Thaís, Deiva, Kumaran, Neuteboom, Rinze F.

“…Over the past few years, increasing interest in the role of autoantibodies against myelin oligodendrocyte glycoprotein (MOG-abs) as a new candidate biomarker…”
Get full text

Epilepsy and developmental disorders: Next generation sequencing in the clinic by Symonds, Joseph D., McTague, Amy

“…The advent of Next Generation Sequencing (NGS) has led to a redefining of the genetic landscape of the epilepsies. Hundreds of single gene epilepsies have been…”
Get full text

Mid- and long-term (at least 12 months) follow-up of patients with spinal muscular atrophy (SMA) treated with nusinersen, onasemnogene abeparvovec, risdiplam or combination therapies: A systematic review of real-world study data by Erdos, Judit, Wild, Claudia

“…This systematic review aimed to assess mid- and long-term (at least 12 months) real-world study data from all types of spinal muscular atrophy (SMA) patients…”
Get full text

Ketogenic diet guidelines for infants with refractory epilepsy by van der Louw, Elles, RD, van den Hurk, Dorine, RD, Neal, Elizabeth, RD PhD, Leiendecker, Bärbel, RD, Fitzsimmon, Georgiana, RD, Dority, Laura, MS, RD, LD, Thompson, Lindsey, MS, RD, CSP, LD, Marchió, Maddelena, RD, Dudzińska, Magdalena, MD, Dressler, Anastasia, MD, Klepper, Joerg, MD, Auvin, Stéphane, MD, PhD, Cross, J. Helen, MD, PhD

“…Abstract The ketogenic diet (KD) is an established, effective non-pharmacologic treatment for drug resistant childhood epilepsy. For a long time, the KD was…”
Get full text

E.U. paediatric MOG consortium consensus: Part 5 – Treatment of paediatric myelin oligodendrocyte glycoprotein antibody-associated disorders by Bruijstens, Arlette L., Wendel, Eva-Maria, Lechner, Christian, Bartels, Frederik, Finke, Carsten, Breu, Markus, Flet-Berliac, Lorraine, de Chalus, Aliénor, Adamsbaum, Catherine, Capobianco, Marco, Laetitia, Giorgi, Hacohen, Yael, Hemingway, Cheryl, Wassmer, Evangeline, Lim, Ming, Baumann, Matthias, Wickström, Ronny, Armangue, Thaís, Rostasy, Kevin, Deiva, Kumaran, Neuteboom, Rinze F.

“…In recent years, the understanding about the different clinical phenotypes, diagnostic and prognostic factors of myelin oligodendrocyte…”
Get full text

Current role of melatonin in pediatric neurology: Clinical recommendations by Bruni, Oliviero, Alonso-Alconada, Daniel, Besag, Frank, Biran, Valerie, Braam, Wiebe, Cortese, Samuele, Moavero, Romina, Parisi, Pasquale, Smits, Marcel, Van der Heijden, Kristiaan, Curatolo, Paolo

“…Abstract Background/purpose Melatonin, an indoleamine secreted by the pineal gland, plays a key role in regulating circadian rhythm. It has chronobiotic,…”
Get full text

Severe Neurological Impairment: A delphi consensus-based definition by Allen, John, Brenner, Maria, Hauer, Julie, Molloy, Eleanor, McDonald, Denise

“…Severe Neurological Impairment (SNI) is a term for which there is no consistently used definition. This may hamper consistency in the reporting of research in…”
Get full text

The phenotypic spectrum of SCN2A-related epilepsy by Reynolds, Claire, King, Mary D., Gorman, Kathleen M.

“…Pathogenic variants in SCN2A are reported in a spectrum of neurodevelopmental disorders including developmental and epileptic encephalopathies, benign familial…”
Get full text

Diagnosis and treatment of Guillain-Barré Syndrome in childhood and adolescence: An evidence- and consensus-based guideline by Korinthenberg, R., Trollmann, R., Felderhoff-Müser, U., Bernert, G., Hackenberg, A., Hufnagel, M., Pohl, M., Hahn, G., Mentzel, H.J., Sommer, C., Lambeck, J., Mecher, F., Hessenauer, M., Winterholler, C., Kempf, U., Jacobs, B.C., Rostasy, K., Müller-Felber, W.

“…This evidence- and consensus-based practical guideline for the diagnosis and treatment of Guillain-Barré Syndrome (GBS) in childhood and adolescence has been…”
Get full text

Developmental coordination disorder: A review and update by Zwicker, Jill G, Missiuna, Cheryl, Harris, Susan R, Boyd, Lara A

“…Abstract Present in approximately 5–6% of school-aged children, developmental coordination disorder (DCD) is a neuromotor disability in which a child's motor…”
Get full text

Centromedian thalamic nuclei deep brain stimulation and Anakinra treatment for FIRES – Two different outcomes by Sa, Mario, Singh, Rinki, Pujar, Suresh, D'Arco, Felice, Desai, Nivedita, Eltze, Christin, Hughes, Elaine, Al Obaidi, Muthana, Eleftheriou, Despina, Tisdall, Martin, Selway, Richard, Cross, J. Helen, Kaliakatsos, Marios, Valentin, Antonio

“…Febrile infection-related epilepsy syndrome (FIRES) is a severe epilepsy disorder that affects previously healthy children. It carries high likelihood of…”
Get full text

Genetic potassium channel-associated epilepsies: Clinical review of the Kv family by Allen, Nicholas M., Weckhuysen, Sarah, Gorman, Kathleen, King, Mary D., Lerche, Holger

“…Next-generation sequencing has enhanced discovery of many disease-associated genes in previously unexplained epilepsies, mainly in developmental and epileptic…”
Get full text

Genetic potassium channel-associated epilepsies: Clinical review of the K v family by Allen, Nicholas M, Weckhuysen, Sarah, Gorman, Kathleen, King, Mary D, Lerche, Holger

“…Next-generation sequencing has enhanced discovery of many disease-associated genes in previously unexplained epilepsies, mainly in developmental and epileptic…”
Get full text

Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features by Battaglia, Agatino, Doccini, Viola, Bernardini, Laura, Novelli, Antonio, Loddo, Sara, Capalbo, Anna, Filippi, Tiziana, Carey, John C

“…Abstract Background and objectives Submicroscopic chromosomal rearrangements are the most common identifiable causes of intellectual disability and autism…”
Get full text

Burden-of-illness and cost-driving factors in Dravet syndrome patients and carers: A prospective, multicenter study from Germany by Strzelczyk, Adam, Kalski, Malin, Bast, Thomas, Wiemer-Kruel, Adelheid, Bettendorf, Ulrich, Kay, Lara, Kieslich, Matthias, Kluger, Gerhard, Kurlemann, Gerhard, Mayer, Thomas, Neubauer, Bernd A., Polster, Tilman, Herting, Arne, von Spiczak, Sarah, Trollmann, Regina, Wolff, Markus, Irwin, John, Carroll, Joe, Macdonald, Daniel, Pritchard, Clive, Klein, Karl Martin, Rosenow, Felix, Schubert-Bast, Susanne

“…Dravet syndrome (DS) is a rare developmental and epileptic encephalopathy. This study estimated cost, cost-driving factors and quality of life (QoL) in…”
Get full text

Updated clinical recommendations for the management of tuberous sclerosis complex associated epilepsy by Specchio, Nicola, Nabbout, Rima, Aronica, Eleonora, Auvin, Stephane, Benvenuto, Arianna, de Palma, Luca, Feucht, Martha, Jansen, Floor, Kotulska, Katarzyna, Sarnat, Harvey, Lagae, Lieven, Jozwiak, Sergiusz, Curatolo, Paolo

“…Children with tuberous sclerosis complex (TSC), may experience a variety of seizure types in the first year of life, most often focal seizure sand epileptic…”
Get full text

Melatonin for neuroprotection in neonatal encephalopathy: A systematic review & meta-analysis of clinical trials by Ahmed, Javed, Pullattayil S, Abdul Kareem, Robertson, Nicola J., More, Kiran

“…Melatonin has shown neuroprotective properties in pre-clinical studies of perinatal asphyxia through antioxidant, anti-apoptotic and anti-inflammatory actions…”
Get full text