Presentations and Authors


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Cerebral Palsy and Neurodisability

Cognitive profile in children with bilateral spastic cerebral palsy due to periventricular leukomalacia
Kaeko Ogura, Yukihiro Kitai, Satori Hirai, Hiroshi Arai
Upper Limb Habilitation in Children with Hemiplegic Cerebral Palsy Using A Novel Robotic Device – Assessment Using Jebsen-Taylor and Bruininks-Oseretsky Tests
Hian-Tat ONG, Hian-Tat ONG, Jia Xuan Tan, Michelle Lee, Jeremy LIN, Chee Leong Teo, Etienne Burdet, Sam Shuzhi Ge
Genomic analysis identifies pathogenic variants in 9 of 17 cases with full-term cerebral palsy
Yusuke Takezawa, Atsuo Kikuchi, Kazuhiro Haginoya, Tetsuya Niihori, Yurika Numata-Uematsu, Takehiko Inui, Saeko Yamamura-Suzuki, Takuya Miyabayashi, Mai Anzai, Sato Suzuki-Muromoto, Yukimune Okubo, Wakaba Endo, Noriko Togashi, Yasuko Kobayashi, Akira Onuma, Ryo Funayama, Matsuyuki Shirota, Keiko Nakayama, Yoko Aoki, Shigeo Kure

CNS Infections

G-Therapy: A Hope For Patients With Subacute Sclerosing Panencephalitis!
Gunvant Devichand Oswal, Dr.Pooja Shrirang Upasani, Dr. Umesh D. Kalane, Dr.Nandan Yardi, Dr. Anaita Udwadia Hegde
High burden of neurological presentations in children admitted to Kenyan hospitals: A multi-hospital cohort study.
Jane Hassell, Thomas Julius, Morris Ogero, Charles RJC Newton, Mike English, Sam Akech

Education and Training

Worldwide short course education programmes in epilepsy for paediatricians – are they effective?
Alison Gifford, Jo Wilmshurst, Finbar O'Callaghan, Mike Griffiths, Colin Dunkley, Philippa Rodie, Helen Cross, Martin Kirkpatrick

Development Cognition and Psychiatry

Tuberous Sclerosis Complex (TSC)-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Gender and Genotype in Relation to Intellectual Phenotype
Petrus J De Vries, Elena Belousova, Mirjana P Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D´Amato, Guillaume B d'Augères, José C Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, John A Lawson, Alfons Macaya, Ruben Marques, Rima Nabbout, Finbar O’Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, John C Kingswood, Anna C Jansen
Creating an assessment scale of social and behavioral development for preschool children -The process of creating the scale-
Hideyo Goma, Shun Tanaka, Michio Ushiyama, Tomomi Ikeda, Rika Ochiai, Toshihiro Kato, Satomi Shimizu, Kazuhisa Inoue, Reiko Ushio, Hiromi Kotani

Epilepsy

Classifying Electroencephalographic Diagnoses of Epilepsy without Epileptiform Discharges and Nonepileptic Paroxysmal Events Using Deep Convolutional Neural Networks
Lung-Chang Lin, Chen-Sen Ouyang, Ching-Tai Chiang, Rong-Ching Wu, Hui-Chuan Wu, Rei-Cheng Yang
Tuberous Sclerosis Complex (TSC) - Associated Epilepsy: Final Results from the TOSCA Study
Rima Nabbout, Elena Belousova, Mirjana P Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D´Amato, Guillaume B d'Augères, Petrus J De Vries, José C Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, John A Lawson, Alfons Macaya, Ruben Marques, Finbar O’Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna C Jansen, John C Kingswood
Yield of Laboratory Testing in Pediatric Ketogenic Diet Patients: Critical Assessment of Abnormal Results and Impact on Clinical Care.
Charuta Joshi, Chelsey Stillman, Stephanie Criteser, Alison Conley, Jennifer Oliver
Asymptomatic malaria parasitaemia and seizure control in children with nodding syndrome; a cross sectional study
Rodney Ogwang, Ronald Anguzu, Pamela Akun, Albert Ningwa, Edward Kayongo, Kevin Marsh, Charles Newton, Richard Idro

Headache

Examination of children with migraine; Three years experience
Deniz Karakaya, Deniz Yüksel, Hülya Kayılıoglu, Ayşe Aksoy, Ulkuhan Oztoprak, Çigdem Genç Sel, Erhan Aksoy, Ozge Dedeoglu

Metabolic Disorders

Gene therapy improves global development in AADC deficiency
Takanori Yamagata, Karin Kojima, Akihiko Miyauchi, Takeshi Nakajima, Naoyuki Taga, Sachie Nakamura, Mitsuhiro Kato, Hitoshi Osaka, Shin-ichi Muramatsu
Gelastic cataplexy leading to the diagnosis of Niemann-Pick disease type C
Ezgi Oktener Anuk

Muscle and Nerve

Incidence of infantile spinal muscular atrophy in Shikoku Island of Japan
Kentaro Okamoto, Mitsumasa Fukuda, Isao Saito, Risako Urate, Satoshi Maniwa, Daisuke Usui, Takahiro Motoki, Toshihiro Jogamoto, Kaori Aibara, Takatoshi Hosokawa, Yukihiko Konishi, Reiko Arakawa, Kenji Mori, Eiichi Ishii, Kayoko Saito, Hisahide Nishio
Childhood Onset Limb Girdle Muscular Dystrophies in Aegean Part of Turkey
Uluç Yiş, Gülden Diniz, Filiz Hazan, hülya sevcan daimagüler, bahar toklu baysal, figen baydan, gülçin akıncı, aycan ünalp, gül aktan, erhan bayram, semra hız, cem paketçi, derya okur, erdener özer, ayça ersen danyeli, gökhan uyanık, sebahattin çırak
Combination of Topiramate and Lacosamide is Effective for Paramyotonia Congenita with neurological symptoms
Yoshie Kurokawa, Akihiko Miyauchi, Akihiko Miyauchi, Hirokazu Yamagishi, Hirokazu Yamagishi, Eriko Jimbo, Eriko Jimbo, Kazuhiro Muramatsu, Kazuhiro Muramatsu, Hitoshi Osaka, Hitoshi Osaka, Takanori Yamagata, Takanori Yamagata
Design of a phase 3 trial to evaluate the long-term efficacy and safety of ataluren in patients with nonsense mutation Duchenne muscular dystrophy
Francesco Bibbiani, Panayiota Trifillis, Edward O'Mara, Joseph McIntosh
Late onset LAMA-2 Deficiency Congenital Muscular Dystrophy
Amarinder Singh Oberoi, Krishnakumar N Shah
Explore evaluation methods of treatment efficacy on spinal muscular atrophy
kotaro yuge, Masao Suda, Ryuta Ishii, Takashi Ohya, Shinichiro Nagamitsu, Motomu Yoshida, Yushiro Yamashita

Neurogenetics

Two Siblings with Congenital Myotonia carrying a New Mutation in the CLCN 1 Gene
Nezir Özgün
Two distinct phenotypes caused by the same mutation in the SAMHD1 gene
Serdal Gungor, Derya Okur, Elmasnur Yilmaz, Ana Topf, Rita Horvath, Hanns Lochmuller, Bilge Ozgor, Ece Sonmezler, Uluc Yis, Ahmet Yaramis, Yavuz Oktay, Semra Hiz
CONSEQUITUR: A multinational effort towards determining the neurogenetic disease burden of consanguineous marriages in Turkey by genomics approaches
Semra Ayse Hiz, Elmasnur Yilmaz, Derya Okur, Ece Sonmezler, İpek Kalafatcilar, Serdal Gungor, Ahmet Yaramis, Uluc Yis, Erhan Bayram, Ana Topf, Rita Horvath, Hanns Lochmuller, Yavuz Oktay
Clinical and Imaging Characteristics of Subependymal Giant Cell Astrocytoma in Patients with Tuberous Sclerosis Complex included in TOSCA – TuberOus SClerosis Registry to IncreAse Disease Awareness
Anna C Jansen, Elena Belousova, Mirjana P Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D´Amato, Guillaume B d'Augères, Petrus J De Vries, José C Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, John A Lawson, Alfons Macaya, Ruben Marques, Rima Nabbout, Finbar O’Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, John C Kingswood
Burden of Illness and Quality of Life among Patients with Tuberous Sclerosis Complex: Findings from TOSCA Research Project
Anna C Jansen, Elena Belousova, Mirjana P Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D' Amato, Guillaume B d'Augères, Petrus J de Vries, José C Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, John A Lawson, Alfons Macaya, Ruben Marques, Rima Nabbout, Finbar O’Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, John C Kingswood
Assessment of cardiac involvement in childhood Neurofibromatosis Type 1 diagnoses, identification of Rasopathic cases
Ilyas Emre Tekdemir, Deniz Yüksel, Vehbi Dogan, Ayşe Aksoy, Hulya Kayılıoglu, Ulkuhan Oztoprak, Erhan Aksoy, Cigdem Sel
Hereditary spastic paraplefgia (HSP) in Brazilian children: a clinical and genetic study.
Roberta Magalhães Ortega, Marcondes Cavalcante França Jr., Sergio Rosemberg

Neurocritical care, Neurotrauma, Neuroprotection

Assessment of clinical follow-up and prognosis in acute neurological condition in pediatric patients managed in pediatric intensive care unit
Ece Naz Karakaya, Deniz Yüksel, Selman Kesici, Ayşe Aksoy, Ülkühan Öztoprak, Çigdem Genç Sel, Erhan Aksoy, Hülya Kayılıoğlu

Neuroradiology

Vacuolar leukodystrophy revealing COX10 mutation
Thouraya Ben Younes, Hanene Benrhouma, Rania Ben Aoun, Lilia Kraoua, Said Galai, Hedia Klaa, Aida Rouissi, Ridha Mrad, Cyrine Drissi, Souhail Omar, Abdelhamid Slama, Ichraf Kraoua, Ilhem Ben Youssef-Turki

Neurooncology

A randomized, double-blind, parallel group, placebo-controlled trial of metformin in tuberous sclerosis complex
Sam Amin, Andrew A Mallick, Hannah Edwards, Andrew Lux, Amjad Khan, Matthew Laugharne, Marcus Likeman, Finbar O'Callaghan

Stroke & Neurovascular Disorders

Brain Magnetic Resonance imaging and angiography findings in Ugandan children with Sickle Cell Anemia; a cross sectional study
Richard Idro, Nancy Green, Deogratius Munube, Linda Buluma, Bridget Kebirungi, Robert Opoka, Paul Bangirana, Ezekiel Mupere, Edward Kayongo, Rogers Sekibira, Phillip Kasirye, Iga Matovu, Samson Kamya Lubowa, Michael Kawooya, Philip Larussa, Frank Minja


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