Presentations and Authors


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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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