Institute for Rehabilitation, Transition and Palliative Care of Neurologically Ill Children
Publications

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants

Sebastian Ortiz, Leonardo Affronte, Chiara Bagliani, Serene El-kamand, Anthony Sze Hon Kan, Isabel T. Kristoffersen, Rebekka S. Dahl, Anne F. Hojte, Stephane Auvin, Arjan Bouman, Shimriet Zeidler, Gerhard Kluger, Gaetan Lesca, Nicolas Chatron, Zeynep Goke-Samar, Maria T. Papadopoulou, Matthildi Athina Papathanasiou Terzi, Elise Schaefer, Anne de Saint Martin, Sarah Baer, Mohammed Al Owain, Saud Takroni, Hesham Al-Dhalaan, Paolo Bonanni, Alessandra Rossi, Nicoletta Zanotta, Marina Trivisano, Nicola Specchio, Angela de Dominicis, Pasquale Striano, Alessandro Orsini, Maria Margherita Mancardi, Sebastian Neuens, Melanie Jennesson-Lyver, Ira Benkel-Herrenbrueck, David Genevieve, Richard Sidlow, Kamer Tezcan, Ilona Krey, Johannes R. Lemke, Konrad Platzer, Damien Lederer, Inga Talvik, Ulvi Vaher, Kees P. J. Braun, Anne-marie Guerrot, Rebecca More, Matthias De Wachter, Sarah Weckhuysen, Evelina Carapancea, Maria Roberta Cilio, Julia Jacobs, Katalin Sterbova, Simona Balestrini, Renzo Guerrini, Giulio Peroni, Inger-lise Mero, Walaa ElNaggar, Nour Elkhateeb, Ariane Schmetz, Denise L. Chan, Ghayda M. Mirzaa, Boris Chaumette, Adrien Legrand, Amy McTague, Tommy Stodberg, Rebekah V. Harris, Samuel F. Berkovic, Ingrid E. Scheffer, Mary Chebib, Elena Gardella, Philip K. Ahring, Nathan L. Absalom, Rikke S. Moller , GENOTYPE-PHENOTYPE CORRELATION; GABA(A) receptor-related disorders; Clinical biomarker; Developmental and epileptic encephalopathy; Functional variant classification; Motor disability prediction;

Focal Cortical Dysplasia Type IIa and SCN5A-associated Genetic Arrhythmia

Leon Joschka Steigleder, Tom Pieper, Gerhard Josef Kluger, Kristina Weber, Friederike Studt, Heidi Luise Estner, S. Clauss, Meike Schrader, Robert Dalla Pozza, Milka Pringsheim , DYSPLASIA; ARRHYTHMIA; Brugada; Fcd; Scn5a; Sudep;

Compulsive Respiratory Stereotypies in a Patient with SYNGAP1 Mutation

Till Hartlieb, Celina Von Stulpnagel, Kirsten Eschermann, Lorenz Kiwull, Daniel Weghuber, Gerhard Kluger, Milka Pringsheim

Lennox-Gastaut syndrome unveiled

Antonella Riva, Gianluca D'onofrio, Elisabetta Amadori, Alexis Arzimanoglou, Stephane Auvin, Irene Bagnasco, Paola Barabino, Valentina Biagioli, Isabella Brambilla, Giuliana Cangemi, Antonietta Coppola, Antonella De Lillo, Carlo Di Bonaventura, Giancarlo Di Gennaro, Edoardo Ferlazzo, Antonio Gil-nagel, Giuseppe Gobbi, Simona Lattanzi, Gerhard Kluger, Gunter Kramer, Maria Margherita Mancardi, Carlo Minetti, Lino Nobili, Elisa Paravati, Milka Pringsheim, Erika Rebessi, Antonino Romeo, Angelo Russo, Emilio Russo, Katia Santoro, Susanne Schubert-bast, Laura Siri, Jo Sourbron, Maria Stella Vari, Alberto Verrotti, Flavio Villani, Maurizio Viri, Celina Von Stulpnagel, Nelia Zamponi, Federico Zara, Pasquale Striano , EPILEPSY; Lennox-Gastaut; Multidisciplinary care; Patient advocacy;

Adjunctive acetazolamide for drug-resistant seizures in SLC6A1-related neurodevelopmental disorder

Gia Melikishvili, Olivier Dulac, Otar Koniashvili, Giorgi Mamardashvili, Tamar Gachechiladze, Nazhi Tabatadze, Mariam Melikishvili, Rimma Gamirova, Tatyana Tomenko, Igor Bakhtin, Amber Freed, Elena Bossi, Bruria Ben-Zeev, Gerhard Kluger, Antonio Falace, Antonella Riva, Kai Kaila, Pasquale Striano , GABA; EPISODIC ATAXIA; AUTISM; PHOTOSENSITIVITY; Ataxia; Acetazolamide; Developmental delay;

Toward a working definition of ketogenic diet resistance in GLUT1 deficiency syndrome

Raffaele Falsaperla, Vincenzo Sortino, Gerhard Josef Kluger, Thomas Herberhold, Andrea Ruegger, Pasquale Striano, Martino Ruggieri, Joerg Klepper, Georgia Ramantani , Glut1ds; Ketogenic diet resistance; Metabolic disease;

Successful use of fenfluramine in drug resistant epileptic encephalopathy with spike-wave activation in sleep (EE-SWAS)- an automated EEG study

J. Koch, K. Steinbruecker, G. Kluger, S. Knasmueller, E. Trinka , EPILEPSY; Drug Resistance; Automated spike detection;

Clinical presentation, MR imaging and outcome in children with myelin oligodendrocyte glycoprotein antibody-negative acute disseminated encephalomyelitis

M. Panagi, A. Blaschek, A. Selek, M. Baumann, R. Cleaveland, A. Panzer, C. Conrad, A. Della Marina, K. Egler, J. Finsterwalder, T. Geis, H. Hartmann, M. Hausler, P. Hofstetter, M. Karenfort, G. Kluger, S. Leiz, A. Merkenschlager, M. Nosadini, S. Sartori, M. Salandin, M. Schimmel, B. Kornek, E. M. Wendel, M. Reindl, K. Rostasy, , CENTRAL-NERVOUS-SYSTEM; MULTIPLE-SCLEROSIS; DEMYELINATION; Hemophagocytic lymphohistiocytosis;

Efficacy and tolerability of fenfluramine with concomitant potassium bromide in patients with Dravet syndrome

Milka Pringsheim, Gerhard Kluger, Adam Strzelczyk, Susanne Schubert-Bast, Thomas Mayer, Benjamin Glauche, Hiltrud Muhle, Michael Alber, Hartwig Spors, Tilmann Polster, Regina Trollmann, Gerhard Kurlemann, Markus Berndt, Kerstin A. Klotz , EPILEPSY; SEIZURES; DRAVET SYNDROME; FENFLURAMINE; Drug-drug interaction; Potassium bromide;

Psychological aspects of hippotherapy for children with severe neurological impairment

Karin Hediger, Marina Lunzenfichter, Eva Markzoll, Wanda Arnskotter, Martina Schaudek, Gerhard Kluger , CEREBRAL-PALSY; GROSS MOTOR FUNCTION; SPASTICITY;

Combined Gelastic and Dacrystic Seizures in a Child with Hypothalamic Hamartoma

Lorenz Kronast, Sarah Schweikart, Marcus Jakob, Friederike Studt, Gerhard Kluger, Till Hartlieb

Human brain tissue with MOGHE carrying somatic SLC35A2 variants reveal aberrant protein expression and protein loss in the white matter

Erica Cecchini, Simon Geffers, Roland Coras, Dorothea Schultheis, Christian Holtzhausen, Kristina Karandasheva, Harald Herrmann, Friedrich Paulsen, Christine Stadelmann, Katja Kobow, Till Hartlieb, Christian G. Bien, Dennis Lal, Ingmar Blumcke, Lucas Hoffmann , BRAIN; EPILEPSY; OLIGODENDROCYTES; MYELIN; Moghe; Neuropathology;

Intraventricular Application of Baclofen Using Navigated Frameless Stereotaxy

Maria Abel, Manfred Kudernatsch, Sergey Persits, Christina Onyinzo, Thomas Herberhold, Till Hartlieb, Gerhard Kluger, Steffen Berweck , INTRAVENTRICULAR BACLOFEN; Dystonia; Navigated frameless stereotaxy;

Long-term safety and effectiveness of fenfluramine in children and adults with Dravet syndrome

Ingrid E. Scheffer, Rima Nabbout, Lieven Lagae, Orrin Devinsky, Stephane Auvin, Elizabeth A. Thiele, Elaine C. Wirrell, Tilman Polster, Nicola Specchio, Milka Pringsheim, Katsumi Imai, Michael D. Lock, Melanie Langlois, Rebecca Zhang Roper, Amelie Lothe, Joseph Sullivan , EPILEPSY; seizure; Anti-seizure medication;

Seizure outcomes following epilepsy surgery in pediatric and young adult patients with high-grade brain tumors

Robert Lersch, Till Hartlieb, Tom Pieper, Manfred Kudernatsch, Wiebke Hofer, Carmen Barba, Renzo Guerrini, Flavio Giordano, Marianna Pommella, Susanne Schubert-Bast, Steffen Syrbe, Ricardo Rego, Jorge Pinheiro, Martha Feucht, Alexander Beck, Roland Coras, Ingmar Blumcke, Michael Alber, Moritz Tacke, Jan Remi, Christian Vollmar, Mathias Kunz, Jay Shetty, Ailsa Mclellan, Drahoslav Sokol, Jothy Kandasamy, Kerstin Alexandra Klotz, Victoria San Antonio-Arce, Andreas Schulze-Bonhage, Joshua Pepper, William B. Lo, Alexis Arzimanoglou, Stefano Francione, Christian J. Braun, Ingo Borggraefe , CHILDREN; EPILEPSY SURGERY; DRUG-RESISTANT EPILEPSY; High-grade brain tumors; Seizure freedom;

Balance Performance After Mild Traumatic Brain Injury in Children and Adolescents

Nils K. T. Schoenberg, Johanna Wagner, Korbinian Heinrich, Ida Kandler, Tobias Graf, Rieke Boeddeker, Lea Zinke, Nicole Fabri, Julia Wilke, Florian Hoffmann, A. Sebastian Schroeder, Anne-Sophie Holler, Alexandra Froeba-Pohl, Oliver Muensterer, Doreen Huppert, Matthias Hoesl, Florian Heinen, Michaela V. Bonfert , POSTURAL CONTROL; Traumatic brain injury; Concussion; Persistent post-concussive symptoms; Post-concussion syndrome;

Recommendations of the GAMMA association for the standardization of clinical movement analysis laboratories

Andreas Kranzl, Felix Stief, Harald Böhm, Nathalie Alexander, Katrin Bracht-Schweizer, Matthias Hartmann, Matthias Hösl, Ursula Trinler, Klaus Widhalm, Brian Horsak , Humans; Biomechanical Phenomena; Gait Analysis/standards; Laboratories, Clinical/standards; Gait/physiology;

Exploring ketogenic diet resistance in glucose transporter type 1 deficiency syndrome

Raffaele Falsaperla, Vincenzo Sortino, Gerhard Josef Kluger, Thomas Herberhold, Andrea Rüegger, Pasquale Striano, Martino Ruggieri, Joerg Klepper, Georgia Ramantani , Humans; Female; CHILD; ADOLESCENT; Child, Preschool; Infant; Monosaccharide Transport Proteins/deficiency; Infant, Newborn; Treatment Failure; Diet, Ketogenic; Carbohydrate Metabolism, Inborn Errors/diet therapy; Drug Resistant Epilepsy/diet therapy; Glucose Transporter Type 1/deficiency;

Amitriptyline use in individuals with KCNQ2/3 gain-of-function variants

Matthias De Wachter, Charissa Millevert, Joost Nicolai, Elisabeth Cats, Gerhard Kluger, Mathieu Milh, Robin Cloarec, Steffen Syrbe, Katrijn Arts, Katrien Jansen, Magdalena Krygier, Robert Smigiel, Stephane Auvin, Kern Olofson, Cathrine Elisabeth Gjerulfsen, Berten Ceulemans, Rikke S. Moller, Allan Bayat, Sarah Weckhuysen , PRECISION MEDICINE; <italic>KCNQ2</italic>; <italic>KCNQ3</italic>; <italic>n</italic>-of-1 trial; Neurodevelopmental delay;

Orthotic bracing to treat equinus in children with spastic cerebral palsy

Claudia Oestreich, Harald Boehm, Matthias Hoesl, Leonhard Doederlein, Daniela Lewens, Chakravarthy U. Dussa, Renate Oberhoffer-Fritz , GAIT ANALYSIS; Ankle-foot orthoses;