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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