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Cerebral Palsy and Neurodisability

Outcomes and SLC2A1 Mutations in Febrile Young Infants with Hypoglycorrhachia
WENHAO YU
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
General Movement Assessment in High Risk Infants in Sri Lanka: Experience from a Large Tertiary Care Hospital
gemunu prabhath hewawitharana, Piyumi Sasikala Wickramarachchi, Ayesha Yaddehi, R.D. Susantha Kumara, K.V. Kanchana Nilukshika, K.M.I. Induli, D.R. Sadeepi Chathuranga, D.L.N. Priyangika, W.R.A. Shantha, Sajee Anuradha Gamage, Bimba D.R. Hewawitharana, Champa J Wijesinghe

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
Seasonal Influenza-Related Neurologic Complications in Children from 2010 to 2015
Eun Young Kim, Hui Jeong Yun, Hyung Min Cho

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
Plasma amino acid profile in children with autism spectrum disorder
Wen-Xiong Chen, Min-Zhi PENG, Yan-Na CAI, Zhi-Fang HUANG, Jin-Yu HUANG, Si-Yuan YANG, Peng YI, Li LIU
Acupuncture for non-verbal autistic children: a randomized controlled trial
Wen-Xiong Chen, Gang LIU, Hong-Sheng LIU, Zhi-Fang HUANG, Jin-Yu HUANG, Si-Yuan YANG

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
Factors associated with Electroencephalographic and Clinical Remission of Benign Childhood Epilepsy with Centrotemporal Spikes
Su Jeong You, Eun Hye Lee
Electroencephalogram Features of Children with Type 1 Diabetes Mellitus
Ceren Gunbey, Ruken Yıldırım
Efficacy of adjunctive vagus nerve stimulation in patients with Dravet syndrome
Songee Youn
The efficacy and safety of levetiracetam treating in pediatric epilepsy in different ages and seizure types
Yu Liu, Xueying Wang, Gaobo Ye, Shaoping Huang, Lin Yang
A Chinese boy with Malonyl-CoA decarboxylase deficiency and a novel mutation in the MLYCD gene
Fang Wang, Lin Yang
Comparison Of Electroencephalographic Sleep Stages With Bispectral İndex Data İn Children
Sanem Yılmaz, Hasan Tekgul, Erdem Simsek, Hande Tekin, Hepsen Mine SERIN, Gul Aktan, Sarenur Gokben
Effects of ketogenic diet on plasma levels of valproic acid in children with epilepsy
Fang Wang, Jinqiu Wang, Baoni Mu, Lin Yang
Comparison of Epileptic Seizure Classifications (ILAE-1981 and ILAE-2017) with A Modular Education Program Among Residents in Pediatrics
Meherrem Imanli, Hasan Tekgul, Erdem Simsek, Hepsen Mine Serin, Seda Kanmaz, Sanem Yilmaz, Gul Aktan, Sarenur Gokben
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
Status Epilepticus in Pediatric Patients Severity Score (STEPSS): A clinical score to predict the outcome of status epilepticus in children.
Sidharth Yadav, Suvasini Sharma, Bijoy Patra, Rajeev Malhotra, Virendra Kumar
Genotype and phenotype of epileptic patients with SCN2A mutations
Qi Zeng, Xiaoling Yang, Dan Wang, Jing Zhang, Jiaoyang Chen, Aijie Liu, Xiaoyan Liu, Xiru Wu, Yuwu Jiang, Yuehua Zhang
Infantile epilepsy with multifocal myoclonus caused by TBC1D24 mutations
Jing Zhang, Jiaoyang Chen, Qi Zeng, Liping Zhang, Xiaojuan Tian, Xiaoling Yang, Zhixian Yang, Ye Wu, Yuehua Zhang
The electroclinical features of CHD2 mutation related epilepsy
Jiaoyang Chen, Jing Zhang, Qi Zeng, Liping Zhang, Hua Li, Zhixian Yang, Xiaoling Yang, Aijie Liu, Yuehua Zhang
Simultaneous quantification of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate, pipecolic acid and alpha-aminoadipic acid in pyridoxine-dependent epilepsy
Zhixian Yang, Jiao Xue, Pan Gong, Junjuan Wang, Minhang Wu, Wenshuang Yang, Shiju Jiang, Ye Wu, Yuwu Jiang, Yuehua Zhang, Tatiana Yuzyuk, Hong Li
Experience with Isoflurane in Paediatric Super Refractory Status Epilepticus
Ashwini Mohan, Lokesh Lingappa, Ramesh Konanki, Nikit Shah, Smilu Mohanlal, Farhan Shaikh, anupama Y, shashwat Mohanty
Two novel PCDH19 missense mutations in a mosaic male and a female epilepsy patients
Qian Peng, Haiming Yuan
Febrile Infection Related Epilepsy Syndrome (FIRES) – A rare cause of super refractory status epilepticus
Aanchal Pradeep Khemani, Sanjay Bafna, Sagar Lad, Nandan Yardi

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
Assessment of the association between pediatric Idiopathic Intracranial Hypertension and olfactory function
Maya Muhlbauer Avni, Naama Yosha-Orpaz, Osnat Konen, Nitza Goldenberg-Cohen, Rachel Straussberg

Metabolic Disorders

Three Cases Of Creatine Deficiency Syndromes Caused By GAMT Gene Mutation
Lei Yang, Fang Fang
Biotin-Thiamine-Responsive Basal Ganglia Disease: A Case Presentation
Ceren Günbey, İnci Türkan Yılmaz, İbrahim Taş, Meral Topçu
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

Muscle and Nerve

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
Spinal Muscular Atrophy – Lower Extremity Dominant Type 2 (SMALED2)
Erdem Simsek, Sanem Yilmaz, Hepsen Mine SERIN, Seda Kanmaz, Gul Aktan, Hasan Tekgul, Sarenur Gokben
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
Explore evaluation methods of treatment efficacy on spinal muscular atrophy
kotaro yuge, Masao Suda, Ryuta Ishii, Takashi Ohya, Shinichiro Nagamitsu, Motomu Yoshida, Yushiro Yamashita
Phenotype-Genotype correlation ofa cohort of children with genetically confirmed Congenital Myasthenic Syndrome
mukul malhotra, Karthik Muttusamy, Sangeetha Yoganathan, Maya Mary Thomas, Pavalan Paneer, sumita Danda
A pediatric case of anti-MuSK-antibody-positive ocular myasthenia gravis
Jeesuk Yu

Neonatal and Fetal Neurology

Association of amplitude integrated EEG findings with short term neurological outcome in term neonates
Giriraj Kumar Sharma, Padma Balaji, Vaanathi H, Shobna R, Rahul Yadav
VICI SYNDROME- A RARE CASE REPORT
Giriraj Kumar Sharma, vaanathi H, padma balaji, shobana R, rahul anand yadav
SOCS3 a new link between Astrocyte and Fetal Alcohol Spectrum Disorder
Chen Yang

Neurogenetics

Delineation of the CLP1 mutations; A possible founder mutation in Turkish cohort
Sema Saltik, Serhat Guler, Tanyel Zubarioglu, Ertugrul Kiykim, Cengiz Yalcinkaya, Gözde Yesil
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
Rett (-like) syndrome: expanding the genetic sprectrum to KIF1A and GRIN1 gene
Jiaping Wang, Jiaping Wang, Qingping Zhang, Yan Chen, Shujie Yu, Xiru Wu, Xinhua Bao
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
LAMA2 related congenital muscular dystrophies- Two case reports and correlation of genotype with clinical, molecular phenotype
SNEHAL MALLAKMIR, SNEHAL MALLAKMIR, Rashid Merchant, Vijay Yewale
ATP1A3 mosaicism in families with alternating hemiplegia of childhood
Xiaoling Yang, Xiaoxu Yang, Shupin Li, Qi Zeng, Jing Zhang, August Yue Huang, Adam Yongxin Ye, Zhe Yu, Sheng Wang, Yuwu Jiang, Xiru Wu, Qixi Wu, Liping Wei, Yuehua Zhang
Study of the rare causative genes and analysis of genotype-phenotype correlations of Dravet syndrome
Xiaojuan Tian, Qi Zeng, Jing Zhang, Aijie Liu, Xiaoling Yang, Yuwu Jiang, Xiru Wu, Yuehua Zhang
The Study of Genotype-phenotype Correlation in Patients with Alternating Hemiplegia of Childhood
Shupin Li,, Xiaoling Yang, Jiaoyang Chen, Qi Zeng, Jing Zhang, Yuehua Zhang
The mosaicism and incomplete penetrance of PCDH19 mutations
Aijie Liu, Xiaoxu Yang, Xiaoling Yang, Qixi Wu, Jing Zhang, Dan Sun, Zhixian Yang, Yuwu Jiang, Xiru Wu, Liping Wei, Yuehua Zhang
Cockayne syndrome: Clinical and genetic study of a Maghrebian series
Thouraya Ben Younes, Ichraf kraoua, Hanene Benrhouma, Aida Rouissi, Hedia Klaa, Houda Yaakoub-Youssef, Najoua Miladi, Ilhem Ben Youssef-Turki
Clinical profile, genetic correlation and treatment response in a cohort of children with genetically confirmed Early Infantile Epileptic Encephalopathy (EIEE)
Karthik Muthusamy, Sumita Danda, Sangeetha Yoganathan, Maya Thomas
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

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
Neuroprotective effects of vitamine D in hiperoxic brain injury
erhan bayram, ipek polat, serap cilaker mıcılı, Meryem Calısır, Uluç Yiş, Guven Erbil, Osman Yılmaz, semra hız kurul
A prospective study on incidence of non-convulsive status epilepticus in children with acute encephalopathy
sruthi thiruveedi, Dr Lokesh Lingappa, Dr Ramesh Konanki, Dr Nikit shah, Dr Anupama yerra, Dr Farhan Shaikh

Neuroradiology

Cranial Magnetic Resonance Imaging patterns in infants with hypernatremic dehydration
Gouri Rao Passi, Shailesh Gupta, Puneet Yadav

Neuroimmunology

Anti-MOG antibody related demyelinating diseases: Clinical-radiological spectrum and treatment experience
Hepsen Mine SERIN, Erdem Simsek, Seda Kanmaz, İpek Dokurel Cetin, Sanem Yılmaz, Gul Aktan, Hasan Tekgul, Sarenur Gokben
Inflammatory neuropathology of infantile Alexander disease: A case report
Kengo Kora, Takeo Kato, Minako Ide, Takayuki Tanaka, Tomokatsu Yoshida
Use of the radiotracer 18F-GE180 for PET scan imaging of active neuro-inflammation in children with multiple sclerosis
Badal G Jain, Hua Li, Zhang Shaohui, Xuyi Yue, Rahul Nikam, Alana Salvucci, Yangchun Xin, Diane Chugani, Harry Chugani

Stroke & Neurovascular Disorders

Cerebral Sinovenous Thrombosis in Children: Single Center Experience
İpek Dokurel Cetin, Hepsen Mine SERIN, Cenk Eraslan, Erdem Simsek, Seda Kanmaz, Sanem Yilmaz, Gul Aktan, Hasan Tekgul, Sarenur Gokben
Factors influencing long term outcomes in childhood arterial ischemic stroke
Maggie LoYee Yau, Jay Gajera, Anneke Grobler, Belinda Stojanovski, Mark MacKay
Intraarterial Embolectomy in Pediatric Arterial Ischemic Stroke
Nesibe Gevher Eroglu Ertugrul, Ceren Gunbey, Ahmet Ziya Birbilen, Ahmet Peker, Anıl Arat, Murat Arsava, Haluk Topaloglu, Dilek Yalnizoglu
Syndromic associations in a cohort of children with moyamoya phenomenon
Atif I A Shaikh, Karthik Muthusamy, Sangeetha Yoganathan, Maya Mary Thomas, Sanjith Aaron


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