Cerebral Palsy and Neurodisability
| 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
| Clinico-Radiological Profile and Outcome of Children with Tubercular Meningitis in a Tertiary Care Centre in Bangladesh | |
| Kanij Fatema, Kanij Fatema, Md Mizanur Rahman |
| A new mouse model of congenital Zika virus infection reveals neurodevelopmental pathways disrupted in congenital Zika syndrome | |
| Ganeshwaran Hitoshi Mochida, Tojo Nakayama, Amanda Guise, Kimino Fujimura, Anais Meziani, Long Cheng, Dylan Vaughan, Andrew Kodani, Ann Durbin, Irene Bosch, Mauro Teixeira, Hanno Steen, Lee Gehrke, Judith Steen |
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 |
| A Study of Trace Elements Status in Children with Infantile Tremor Syndrome: An Inductively Coupled Plasma-Mass Spectrometry (ICP-MS) Based Study | |
| Trinity Deepak Francis |
Epilepsy
| Seizures in children with Zika Virus Congenital Syndrome | |
| Lucas Victor Alves, Patrícia Gomes de Matos Bezerra, Maria Júlia Gonçalves de Mello, Ana Rodrigues Falbo, José Natal Figueiroa |
| A critical analysis of lumbar puncture in the emergency management of febrile seizures: a cross-sectional study | |
| Eduardo Jorge da Fonseca Lima, Gabriel Brito de Moura Monteiro, Alberto de Barros Lima Filho, Lucas Victor Alves |
| 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 |
| Risk Of Recurrence After Withdrawal Of Antiepileptic Medication In Children With Epilepsy | |
| Mizanur Rahman, Sufia Khatun Sumi, Kanij Fatema |
| Analysis of curative effect and influence factors of small dose and short course of ACTH on 73 cases of IS | |
| Xiaodi Han, Fang Fang, Chunhong Chen |
| Clinical characteristics and genetic features of benign infantile epilepsy with PRRT2 mutation | |
| ChunHong Chen, HuSheng Wu, XiaoHui Wang, HongMei Wang, XiaoTun Ren, JunLan Lv, Fang Fang |
| Effectiveness and tolerability of perampanel in children under 7 years old with refractory epilepsy: A single-center, retrospective study | |
| Fu-Man Chang, Wen-Chin Weng, Pi-Chuan Fan, Wang-Tso Lee |
| Screening for Mental Health Problems in Children and Young People with Epilepsy and Early Management in the Clinic Setting | |
| Ailsa McLellan, Suzanne Felix, Catriona George, Kirsten Verity, Michelle Small, Celia Brand, Richard Chin, Jay Shetty |
| X-LINKED EPILEPTIC INFANTILE ENCEPHALOPATHY OF UNUSUAL INHERITANCE | |
| Angeles Schteinschnaider, Solange Gril, Mercedes Villanueva, Agatha Fernandez, Horacio Martinetto, Ezequiel Surace |
| SYNCOPE IN CHILDREN-CLINICO-ETIOLOGICAL CORRELATION | |
| MADHURA FADNIS |
Metabolic Disorders
| Large-single scale mitochondrial DNA deletions in different tissues of patients with Kearns-Sayre syndrome | |
| yuqing shi, fang fang, zhimei liu |
| Three Cases Of Creatine Deficiency Syndromes Caused By GAMT Gene Mutation | |
| Lei Yang, Fang Fang |
| Expanding the phenotype of TRNT1 mutations to include Leigh syndrome. | |
| Carolina Gorodetsky, Chantal F. Morel, Ingrid Tein |
| TRPM6 gene mutation resulted in primary hypomagnesemia with secondary hypocalcemia（HSH） in 3 cases | |
| xiaohui wang, shen zhang, weihua zhang, jiuwei li, changhong ding, fang fang |
| Profile of Peroxisomal Disorders in infancy and childhood | |
| Lobna Abdelgawad Mansour, Ekram Mohamed Fateen, Mohamed Ahmed Rashed, Hoda Ahmed Marzouk, Dina Mohamed Hesham, Lamia Tarek Tawfik |
| Neurometabolic profile of macrocephaly in infancy and childhood, Biochemical and molecular study | |
| Lobna Abdelgawad Mansour, Ekram Mohamed Fateen, Mohamed Ahmed Rashed, Ezzat Mohamed Elsobky, Solaf Mohamed Mohamed, Lamia Tarek Tawfik |
| Clinical and genetic analysis in three Chinese patients with congenital disorder of glycosylation | |
| Changhong Ren, Fang Fang, Changhong Ding |
| Kangaroo gait as a presentation of Hyper-manganesemia | |
| Akash Harakchand Chheda, Vrajesh Udani, Hina Faldu |
| Treatable Leigh syndrome involving mitochondrial cofactor metabolism | |
| Zhimei Liu, Fang Fang |
| Clinical and genetic analysis of progressive cavitating leukoencephalopathy in China | |
| Ren Changhong, Fang Fang, Zhimei Liu |
Movement Disorders
| Management of Status Dystonicus in Children: Reporting of 3 cases with videos. | |
| Kanij Fatema |
| PROGRESSIVE AND SEVERE MOVEMENT DISORDER IN A PATIENT CARRYING A GNAO1 MUTATION RESPONSIVE TO DEEP BRAIN STIMULATION | |
| Angeles Schteinschnaider, Mercedes Villanueva, Milagros Beltramo, Agata Fernandez, Ezequiel Surace, Horacio Martinetto |
| Profile of Neuronal Brain Iron Accumulation in Pediatric population: experience from a tertiary care centre in North India | |
| Ankita Pal, Prateek Kumar Panda, Biswaroop Chakrabarty, Prashant Jauhari, Vishal Sondhi, Rajni Farmania, Atin Kumar, Manisha Jana, Sheffali Gulati |
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 |
| Received care by brazilian patients with Duchenne Muscular Dystrophy | |
| Clarisse Pereira Dias Drumond Fortes |
| Vamorolone, the first dissociative steroidal anti-inflammatory, improves muscle function and shows limited side effects in Duchenne muscular dystrophy (DMD): results of Phase IIa studies in 48 DMD boys. | |
| Michela Guglieri, Kanneboyina Nagaruja, Paula Clemens, Jesse Damsker, John McCall, Edward Smith, Diana Castro, Jean Mah, Craig McDonald, Nancy Kuntz, Richard Finkel, Mar Tulinius, Yoram Nevo, Monique Ryan, Richard Webster, Andrea Smith, Lauren Morgenroth, Eric Hoffman, Laurel Mengle-Gaw, Laurie Conklin |
| Guillain-Barré syndrome in a pediatric tertiary center (last five years) | |
| Mafalda Sampaio, Cristina Garrido, Ruben Rocha, Marcio Cardoso, Ana Paula Sousa, Teresa Temudo, Sónia Figueiroa, Ines Carrilho, Manuela Santos |
| Clinical and genetic characteristics of congenital myasthenia syndrome with episodic apnea caused by CHAT gene mutation in China | |
| Zhimei Liu, Fang Fang |
| A Case of Congenital Myasthenia with False Positive Anti-acetylcholine Receptor antibody | |
| Chee Geap Tay, Limin Li, Chin Seng Gan, Chee Ming Teh, Vigneswari Ganesan, Choong Yi Fong |
| Disorders of Neuromuscular transmission in children: experience of a tertiary centre from North India | |
| Priyanka Madaan, Biswaroop Chakrabarty, Prashant Jauhari, Aparajita Gupta, Rajni Farmania, Vishal Sondhi, Rachna Dubey, Sheffali Gulati |
| Collagen VI related myopathies: clinical variability of triple-helical domain mutations of COL6A mutations | |
| Sophelia HS Chan, Ka Yee Anna Kwong, Ho Ming Luk, Fai Man Ivan Lo, Tsui Hang Sharon Fung, Ho Yin Mandy Tsang, Ho Yin Brian Chung, On-Kei Angel Chan |
Neurogenetics
| The Clinical Profile of Tuberous Sclerosis Complex: A Retrospective Cohort Study in A Tertiary Care Hospital In Bangladesh | |
| Md Mizanur Rahman, Kanij Fatema |
| 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 |
| Genotype and phenotype analysis of Leigh syndrome involving valine metabolism in 8 Chinese children | |
| Xiaodi Han, Fang Fang, Zhimei Liu |
| Gestalt Diagnosis of Children with Intellectual disability with Dysmorphism- Necessity for Establishing Genetic Diagnostic Approach. | |
| Shaoli Sarker, Mustafa Mahbub, Narayan Saha, AZM AZAM, Humaira Rafiqa Quaderi, Shayla Imam Kanta, Sultana Razia, Fayaza Ahmed, Asma Hoque, Ahmed Asif Ferdous, Naila Zaman Khan |
| Challenges in diagnosis and management of Acute Necrotising Encephalitis in a large South African family with RANBP2 mutation | |
| Gillian Tracy Riordan, Alvin Ndondo, Sara Seneca, Karen Fieggen, Jo Wilmshurst |
| A founder homozygous mutation in VPS53 as the cause of Complicated Hereditary Spastic Paraparesis | |
| Moran Hausman-Kedem, Shay Ben-Shachar, Shay Menascu, Liora Sagie, Aviva Fattal-Valevski |
| Hereditary spastic paraplefgia (HSP) in Brazilian children: a clinical and genetic study. | |
| Roberta Magalhães Ortega, Marcondes Cavalcante França Jr., Sergio Rosemberg |
| Infantile Neuroaxonal Dystrophy (INAD) in a Pair of Malaysian Siblings with Progressive Cerebellar Atrophy | |
| Limin Li, Meow Keong Thong, Chee Geap Tay, Choong Yi Fong |
Neuroimmunology
| AUTOIMMUNE ENCEPHALITIS: OUTCOMES IN A PEDIATRIC POPULATION | |
| MONICA elsa FERREA, Paola Di Lalla, Laura Silvina Fernandez, Silvia Intruvini |
Neurosurgery
| Feasibility of using transcranial magnetic stimulation (TMS) for presurgical language mapping in young children | |
| Shalini Narayana, Katherine K Schiller, Luke M Embury, Stephen Fulton, Amy McGregor, Basanagoud Mudigoudar, Sarah Weatherspoon, James W Wheless, Frederick Boop |
| Dermoid cyst mimicking Gastro esophageal reflux disease | |
| Surabhi Kaul, Stephen Katzen, Andrew Minzenmayer, Andrew Fang, Nivedita Thakur, Manish N Shah, Rajan P Patel |
Neurorehabilitation
| DISORDERS OF CONSCIOUSNESS IN PEDIATRIC BRAIN INJURED PATIENTS: OUTCOMES | |
| MONICA elsa FERREA, Flavia Dorrego, Silvia Intruvini |
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