Cerebral Palsy and Neurodisability
| Intramyocellular lipid excess in the mitochondrial disorder MELAS: MRS determination at 7T. | |
| Sailaja Golla, Craig Malloy, Jimin Ren, Juan Pascual |
| 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 |
| Long-term neurodevelopmental outcomes following Extracorporeal Life Support and the role of neuroimaging in predicting outcomes | |
| Sailaja Golla, Lakshmi Raman, Archana Dhar, Pilar Martin, Mary Ann Morris, Jefferson Tweed, stacey scott, Vinai Modem |
| ROLE OF LINGUISTIC PROFILING INASSESSMENTS OF LEARNING AND LANGUAGE DISORDERS IN INDIAN CHILDREN-A CASE CONTROL STUDY | |
| MsNitya Raman, MONA GAJRE, DrNandini Singh |
| CASE CONTROL STUDY ON ANTHROPOMETRIC ASSESSMENT OF CHILDREN WITH CEREBRAL PALSY | |
| Aritra Guha, Dipankar Gupta, Sankar Kumar Das |
| Effect of structured weight bearing exercise on bone mineral density in children with Cerebral Palsy- an observational cohort | |
| Ayush Gupta, U Singh, Biswaroop Chakrabarty, Prashant Jauhari, Atin Kumar, Manisha Jana, P Chaturvedi, Vandana Jain, R M Pandey, Sheffali Gulati |
| 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 |
| Assessment of Neurodevelopmental Status in Infants and Children with Neonatal Hypoglycemic Brain Injury –characterise the Spectrum of Neurodisability (6-42 months)- Pilot Study | |
| pradnya gadgil, Vidhi Shah, Shailee Shah, Abhishek Srivastava |
| Neurodevelopmental assessment of children and adolescents with Neonatal Hypoglycemic Brain Injury (NHBI) to establish the developmental profile in the age group of 6 years- 16 years: A Pilot Study | |
| pradnya gadgil, Yuvika Kamdar, Pavitra Desai, Abhishek Srivastava |
| Resting state cerebral glucose metabolism using [18]Fluoro-Deoxy-Glucose-Positron Emission Tomography (FDG-PET), Central Motor Conduction Times (CMCT) and Somatosensory Evoked Potentials (SEP) in children with dystonic cerebral palsy (CP) | |
| Stavros Tsagkaris, Verity McClelland, Sinead Barkey, Maiju Kattelus, Lesley Baker, Sarah Perides, Daniel Lumsden, Margaret Kaminska, Hortensia Gimeno, Keyoumars Ashkan, Richard Selway, Alexander Hammers, Jean-Pierre Lin |
CNS Infections
| Chikungunya infection and Horner Syndrome: a case report | |
| Lucas Victor Alves, Filipe Marinho Pinheiro Câmara, Mayara Batista Granhara, Alfredo Meneses Neto, João Guilherme Bezerra Alves |
| 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 |
| Japanese Encephalitis with Neurocysticercosis- Coexistence or Coincidence | |
| MAROTI KADAM, Rajwanti K Vaswani, Shagun Shah, Baliram Gore, Chandrahas T Deshmukh, Jane David |
| Clinico-epidemiological profile and outcome of pediatric neurotuberculosis: a retrospective cohort study | |
| Biswaroop Chakrabarty, Vivek Sirolia, Mudit Aggarwal, Prashant Jauhari, Atin Kumar, Sheffali Gulati |
| BILATERAL STRIATAL BRAIN ABSCESS- A RARE SITE, A RARE ORGANISM | |
| Srinivasavaradan Govindarajan, INDRABHUSHAN SINGH, KANIKA GOYAL, ARUSHI GAHLOT SAINI, RENU SUTHAR, SAMEER VYAS, JAYASHREE MURALIDHARAN, MEENU SINGH |
| Syndromic Evaluations of CNS Infections by Multiplexed PCR Panels Enable Rapid Detection and Treatment of Infections | |
| Siddhesh Chorghe, Sumir Pandit, Ashwini Chawathe, Pooja Gowda, Aparna Kotekar |
| Brachial neuritis and Prolonged Survival: The Enigma of Rabies encephalomyelitis | |
| Kanika Goel, Chandana Bhagwat, Arushi Gahlot Saini, Renu Suthar, Reeta Mani, Paramjeet Singh, Namita Ravikumar, Meenu Singh |
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
| The prevalence of parental ADHD in children newly diagnosed with ADHD in urban India | |
| shriganesh patil, Abhinav Neela, Arpita Thakker, Smita Patil, Nandkishor Jadhav, Mona Gajre |
| ROLE OF LINGUISTIC PROFILING INASSESSMENTS OF LEARNING AND LANGUAGE DISORDERS IN INDIAN CHILDREN-A CASE CONTROL STUDY | |
| MsNitya Raman, Dr Mona Gajre, DrNandini Singh |
| The Quality of Life (QoL) in Indian Children with Learning Disorders – a case control study | |
| lekha mishra, jagruti bawa, smita patil, arpita thakker, manikantan r, mona gajre |
| PROFILE OF CHILDREN WITH AUTISTIC SPECTRUM DISORDER ATTENDING A PUBLIC HEALTH HOSPITAL-AN INDIA EXPERIENCE | |
| Dr Vidya Manjeri, Ms preeti Gurav, Ms Bhakti Anant Vanmali, Dr Sushant Sarang, Dr Avinash Dsouza, Dr Mona P Gajre |
| 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 |
| Effect of a Combination of Carnitine, Coenzyme Q10 and Alpha-Lipoic Acid (MitoCocktail) on Mitochondrial Function and Neurobehavioral Performance in Children with Autism Spectrum Disorder | |
| Agustin Legido, Michael Goldenthal, Brigid Garvin, Shirish Damle, Kelleen Corrigan, James Connell, Diana Thao, Ignacio Valencia, Joseph Melvin, Divya Subramanian Khurana, Mitzie Grant, Craig Newschaffer |
| ROLE OF LINGUISTIC PROFILING INASSESSMENTS OF LEARNING AND LANGUAGE DISORDERS IN INDIAN CHILDREN-A CASE CONTROL STUDY | |
| Nitya Raman, MONA GAJRE, DrNandini Singh |
| The prevalence of parental ADHD in children newly diagnosed with ADHD in urban India | |
| shriganesh patil, Abhinav Neela, Arpita Thakker, Smita Patil, Nandkishor Jadhav, Mona Gajre |
| Efficacy of Weighted Compression Vest on Hyperactivity, Inattention and Core Symptoms in children with Autism Spectrum Disorder: an interventional pilot study | |
| Nishtha Gupta, Deepti Gupta, Aparajita Gupta, Shobha Sharma, Lokesh Saini, Prateek Kumar Panda, Asha Chitnise, Sheffali Gulati |
| Health related Quality of Life in Children with Autism Spectrum Disorder aged 3-12 years and correlation with severity of autism and behavioral co-morbidities: a cross-sectional study | |
| Prateek Kumar Panda, Sheffali Gulati, Sanjeeda Khan, Shobha Sharma, Priyanka Madaan, Bhavya G, Prashant Jauhari, R M Pandey |
| Spectrum of Genetic Etiologies in children with Autism Spectrum Disorder: a single institution observational study | |
| Sheffali Gulati, Prateek Kumar Panda, Priyanka Madaan, Prashant Jauhari, Biswaroop Chakrabarty, Aparajita Gupta, Ankita Pal, Sachendra Badal, Vishal Sondhi, Neerja Gupta, Madhulika Kabra |
| Comparison of blood heavy metal levels in children with Autism Spectrum Disorder aged 3-12 years and typically developing children: A cross sectional study | |
| Sheffali Gulati, Aparajita Gupta, Shobha Sharma, Prateek Kumar Panda, Biswaroop Chakrabarty, Rachna Sehgal, Amita Srivastava, Y K Gupta, R M Pandey |
| Comparison of Executive Function between children with Autism Spectrum Disorder and Typically Developing Children: a Cross-sectional study | |
| Ratna Sharma, Asfa Ahmad, Shobha Sharma, Prateek Kumar Panda, Aparajita Gupta, Rupesh Samanchi, Sana Sayeed, Prashant Jauhari, Biswaroop Chakrabarty, Sheffali Gulati |
| Nutritional Status of Children with Autistic Spectrum Disorder | |
| Dr. Vidya Manjeri, Priya Karkera, Disha Bagadia, Bhakti Anant Vanmali, Dr. Sushant Sarang, Dr. Avinash Dsouza, Dr. Mona P. Gajre |
| Clinical Spectrum and Management Outcome of Psychogenic Non Epileptic Seizures in Children: A Prospective Observational Study | |
| Sheffali Gulati, Shobha Sharma, Prateek Kumar Panda, Priyanka Madaan, Prashant Jauhari, Biswaroop Chakrabarty |
| Cognitive Functioning in Children with Epilepsy: Generalized Seizures (GS), Complex Partial Seizure (CPS) and Temporal Lobe Epilepsy (TLE) | |
| Gopukumar Kumarpillai, Sree Krupa Manthri, ashwini S Kalkunte, Umashankar R, shobha Nandavar, Girish Gadre, Murthi G |
| Rare diseases presenting with Autism Spectrum Disorder (ASD); An etiological conundrum | |
| Vrushabh Sopan Gavali, Leena Srivastava, Nirali Thakker, Sujit Jagtap |
| Cranial neuroimaging findings in nutritional vitamin B12 deficiency (NVBD) in infants | |
| Jatinder Singh Goraya |
Epilepsy
| Practical aspects of the use of Ketogenic Diet in the management of Childhood Epilepsy- a review of experience from Scotland | |
| Elma Stephen, Lucy Elphinstone, Helen Grossi, Tracy Cameron |
| Treatment approach for neonates with acute symptomatic seizures influences length of hospital stay | |
| Hannah C. Glass |
| Levels of Immunoglobulins, Complement and T Lymphocyte Subsets in the Peripheral Blood of Children with Convulsive Diseases and Their Signifiances | |
| XY GUO |
| Plasma Galanin and Neuropeptide Y Levels in Children with Convulsive Diseases and Their Signifiances | |
| XY GUO |
| Electroencephalogram Features of Children with Type 1 Diabetes Mellitus | |
| Ceren Gunbey, Ruken Yıldırım |
| First Complex Febrile Seizure – do we need to investigate. | |
| Arpita Devbrata Adhikari, Krishna Shetye, Smita Patil, Mona Gajre |
| The absence of NIPA2 enhances neural excitability through BK channels | |
| Han Xie, Nana Liu, Wenshu Xiangwei, Kai Gao, Tianshuang Wang, Yuwu Jiang |
| 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 |
| 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 |
| WWOX related epileptic encephalopathy: A new autosomal recessively inherited disorder | |
| Hepsen Mine SERIN, Gurkan Gurbuz, Betul Kilic, Bulent Kara, Sarenur Gokben |
| Lacosamide responsive ESES (electrical status epilepticus in slow wave sleep )– 2 case reports | |
| pradnya gadgil, Nilima Bhalerao, Sunita Venkatraman |
| Infantile epilepsy with prolonged focal myoclonic seizures: A distinctive syndrome associated with TBC1D24 mutation. | |
| Deepa Sirsi, John Schreiber, Satish Agadi, Robert S Greenwood, Susan T Arnold |
| 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 |
| Clinico-radiological and electrographic spectrum of children with Temporal lobe epilepsy: a retrospective cohort study | |
| Zulfiqar Luhar, Biswaroop Chakrabarty, Ankita Pal, Prashant Jauhari, Atin Kumar, Shobha Sharma, Sheffali Gulati |
| Outcome of Rasmussen Encephalitis with conservative management | |
| Bijoy Patra, Surendra Bahadur Mathur, Kanti Lal Chakraborti, Preeti Gaddad, Suvasini Sharma, Satinder Aneja |
| Prevalence and association of risk factors for anticonvulsant polytherapy amongst epileptic children: A case-control study | |
| Shifa Bidhan, Krishna M Adhikari, Rakesh Kumar Gupta |
| Clinical utility of next generation sequencing in Early-Onset Epileptic Encephalopathies | |
| Vishal Sondhi, K M Adhikari, Vishal Vishnu Tewari, K Venkatnarayan, Rakesh Gupta |
| Electrophysiological characteristics in children with Subacute sclerosing panencephalitis (SSPE): A study from a tertiary care hospital. | |
| ANSHITA ARORA, SHILPA KULKARNI, MEENAL GARG, SONAM KOTHARI, ANAITA HEGDE, KRISHANKUMAR SHAH |
| CLINICOETIOLOGICAL PROFILE OF CHILDHOOD SEIZURES IN A TERTIARY CARE HOSPITAL: A PROSPECTIVE OBSERVATIONAL STUDY | |
| Akash Rai, Dipankar Gupta, Sankar Kumar Das |
| Does Ethnicity Affect the Clinical Presentation of Tuberous Sclerosis Complex? | |
| Ravi Benjamin Dhamija, Cigdem Akman, Aliza Alter, Daniel McBrian, Elena Gonzalez |
| 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 |
| COMPARISON OF CALCIUM LEVELS IN CHILDREN WITH FEBRILE SEIZURES AND CHILDREN WITH FEVER AND NO SEIZURES | |
| Rekha Mittal, Shailabh Gupta, Naresh Bhatia |
| Some Neuropsychological factors as associated to cognitive functions of Mesial Temporal lobe epilepsy (MTLE) children. | |
| Gopukumar Kumarpillai, Murthy G, Umashankar R, shobha Nandavar, Girish Gadre |
| Retrospective cohort of Dravet syndrome due to SCN gene mutation from Southern India | |
| Hemadriben Muljibhai Vegda, Vykuntaraju Gowda, Raghavendraswami Amoghimath, Asha benakappa |
| EPILEPTIC ENCEPHALOPATHY DUE TO GABRG2 MUTATION | |
| Angeles Schteinschnaider, Isaura Gonzalez, Eliana Julian, Julia Boccoli |
| Efficacy of zinc supplementation in preventing recurrence of febrile seizure in Bangalore | |
| Ramya Ramesh, Rachel Ranitha Peterson, Carolin Elizabeth George |
| Dandy Walker malformation with epileptic spasms | |
| Gürkan Gürbüz |
| X-LINKED EPILEPTIC INFANTILE ENCEPHALOPATHY OF UNUSUAL INHERITANCE | |
| Angeles Schteinschnaider, Solange Gril, Mercedes Villanueva, Agatha Fernandez, Horacio Martinetto, Ezequiel Surace |
| Telephone based follow-up of children with Epilepsy aged 4 months to 18yrs: comparison of accuracy between a Specialty Nurse and a DM Pediatric Neurology Fellow to identify Critical Clinical Events requiring Face-to -Face evaluation | |
| Sheffali Gulati, Prashant Jauhari, Shruti N M, Prateek Kumar Panda, Mable Jossy, Biswaroop Chakrabarty, R M Pandey |
| EPEMA (encephalopathy,petechiae and ethylmalonic aciduria) – a case series. | |
| KAPIL JETHA, Vykuntaraju K Gowda, Varun M Srinivas, Meenakshi Bhat, Maya Bhat, Christopher Rita, Asha Benkappa |
| Cohort of Clinical profile and Outcome of Pyridoxine dependent epilepsy | |
| KAPIL JETHA, Vykuntaraju K Gowda |
Headache
| P300 scores and neurobehavioural profile of children with primary headache | |
| Jyotindra Narayan Goswami, Saroj Kumar Patnaik |
| 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
| Leigh-like syndrome due to homoplasmic m.8993T>G variant with hypocitrullinemia and unusual biochemical features suggestive of multiple carboxylase deficiency (MCD) | |
| Maina Padmanabha Kava, Barry Lewis, Lawrence Greed, Shanti Balasubramaniam |
| Expanding the phenotype of TRNT1 mutations to include Leigh syndrome. | |
| Carolina Gorodetsky, Chantal F. Morel, Ingrid Tein |
| Biotin-Thiamine-Responsive Basal Ganglia Disease: A Case Presentation | |
| Ceren Günbey, İnci Türkan Yılmaz, İbrahim Taş, Meral Topçu |
| Spectrum of Inherited White Matter Disorders in Children and their Outcomes | |
| Vijay Gonda, Arushi Gahlot Saini, Naveen Sankhyan, Jitendra Sahu, sameer vyas, Savita Attri, Inusha panigrahi |
| Lysine- restricted diet in a child with pyridoxine -dependant epilepsy prevents long term developmental delay | |
| Leah Queit, Maina Padmanabha Kava, Barry Lewis, Lawrence Greed, Peter Williams Rowe, Shanti Balasubramaniam |
| MTHFR Deficiency Heavy Form going with Demyelinating Leukodystrophy and Psychomotor Retardation | |
| MESUT GUNGOR, BULENT KARA |
| Resting state cerebral glucose metabolism using [18]Fluoro-Deoxy-Glucose-Positron Emission Tomography (FDG-PET) imaging and motor and sensory neurophysiology in children with Glutaric Aciduria(GA1) dystonia awaiting Deep Brain Stimulation Surgery (DBS) | |
| Stavros Tsagkaris, Sinead Barkey, Maiju Kattelus, Lesley Baker, Sarah Perides, Daniel Lumsden, Margaret Kaminska, Hortensia Gimeno, Keyoumars Ashkan, Richard Selway, Verity McClelland, Alexander Hammers, Jean-Pierre Lin |
| Clinical profile of Indian children with type 1 citrullinemia at a Tertiary care referral centre in Southern India – A Descriptive study | |
| Balamurugan N, Vykuntaraju K Gowda, Rita Christopher, Asha Benakappa |
| Clinical profile of children with type 1 Glutaric aciduria at a Tertiary care referral centre in Southern India – A Descriptive study | |
| Balamurugan N, Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Asha Benakappa |
Movement Disorders
| An Imaging Clue for Treatable Early Childhood-Onset Dystonia - Manganism | |
| Hansashree Padmanabha, Savita Krishnamurthy, Sharath Kumar G G, Indumathi Chikkanayakana |
| Anti-NMDAR Encephalitis in Children ; a Malaysian Experience | |
| Balakrishnan Priyalatha, Tajudin Tajul Arifin, Vigneswari G |
| A tripping kid- Unusual presentation of GLUT 1 Deficiency Syndrome | |
| Jigyasha Sinha, Anirban Ghosal, Hrishikesh Kumar |
| 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 |
| The Tonic Labyrinthine Response (TLR) also known as “Scissoring” is a hallmark of Dystonia | |
| Federica Graziola |
| Status dystonicus in Children: A Nightmare for both the Physician and the Patient | |
| Arushi Gahlot Saini, Kanika Goyal, Sumeet Dhawan, Lokesh Saini, Renu Suthar, Jitendra Sahu, Naveen Sakhyan, Jayashree Muralidharan, Pratibha Singhi |
| Motor and sensory neurophysiology in childhood dystonias correlate with distinct resting glucose brain metabolism patterns using [18F]FDG PET-CT imaging and may help characterise the prognosis of deep brain stimulation (DBS) neuromodulation | |
| Stavros Tsagkaris, Verity McClelland, Sinead Barkey, Maiju Kattelus, Lesley Baker, Sarah Perides, Daniel Lumsden, Margaret Kaminska, Hortensia Gimeno, Teresa Szyszko, Alexander Hammers, Jean-Pierre Lin |
Muscle and Nerve
| Spinal Muscular Atrophy – Lower Extremity Dominant Type 2 (SMALED2) | |
| Erdem Simsek, Sanem Yilmaz, Hepsen Mine SERIN, Seda Kanmaz, Gul Aktan, Hasan Tekgul, Sarenur Gokben |
| UK initiative to speed up diagnosis of Duchenne muscular dystrophy worldwide | |
| Henriette van Ruiten, Mayhew Anna, Helen Aspey, Robert Muni Lofra, Volker Straub, Michela Guglieri |
| Bone Health Monitoring In Boys With Duchenne Muscular Dystrophy: A Survey Of Clinical Practice In The United Kingdom NorthStar Clinical Network | |
| Shuko Joseph, Nadia Capaldi, Marina DiMarco, Iain A Horrocks, Volker Straub, S Faisal Ahmed, Michela Guglieri, Sze Choong Wong, North Star Clinical Network |
| The Efficacy of Acyclovir in Childhood Bell’s Palsy | |
| Gürkan Gürbüz |
| 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 |
| Ragged red fibers in myopathy with white matter changes - mitochondrial disorder or a red herring? | |
| Bijoy Patra, Helman Guy, Suvasini Sharma, Puneet Jain, Ravinder Kumar Saran, MS Van Der Knapp |
| Multiplex ligation-dependent probe amplification based SMN1 deletion analysis in 150-Indian patients with spinal muscular atrophy | |
| Hansashree Padmanabha, Veeramani Preethish-Kumar, KIRAN POLAVARAPU, Saraswati Nashi, Seena Vengalil, Deepha Sekar, Nalini Atchyaram, Priya Thomas, KRISHNA GK |
| Double-blinded Randomized Placebo Controlled trial of Valproate and levocarnitine in Children with Spinal Muscular Atrophy (aged 2-15years) | |
| Sheffali Gulati, Biswaroop Chakrabarty, Jaya Shankar Kaushik, Ranjith Kumar Manokaran, Priyanka Madaan, Prabhjot Kaur, Madhulika Kabra, Sumita Bisoi, Sanjay Wadhwa, R M Pandey, Y K Gupta |
| Prevalence of smooth muscle dysfunction among children with Duchenne muscular dystrophy | |
| Ranjith Kumar Manokaran, Biswaroop Chakrabarty, Prashant Jauhari, Rakesh Kumar, Sandeep Aggarwala, Arun Gupta, Manisha Jana, R M Pandey, Sheffali Gulati |
| Hereditary Sensory and Autonomic Neuropathy Type VII- A Rare Presentation | |
| Maroti Kadam, Swati Gupta, Mamta Muranjan, Rajwanti K Vaswani |
| Etiological Profile of Hereditary Muscular Weakness in Pediatric Outpatients in Northern India | |
| Prateek Kumar Panda, Prashant Jauhari, Biswaroop Chakrabarty, M C Sharma, Vaishali Suri, Chitra Sarkar, Madhulika Kabra, Sheffali Gulati |
| Pulmonary functions in children with dystrophinopathy aged 5-18 years on oral steroid therapy for at least six months | |
| Ankit Meena, Biswaroop Chakrabarty, Kana Ram Jat, S K Kabra, Sheffali Gulati |
| Schwartz-Jampel syndrome responding positively to carbamazepine therapy: a case report and a novel mutation | |
| Gürkan Gürbüz |
| 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 |
| McArdle disease: a diagnosis to suspect in the paediatric age | |
| ruben Rocha, Cristina Garrido, Ana Cardoso, Manuela Santos |
| 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 |
| Clinicopathological profile and treatment outcome of Inflammatory myopathies in children: a retrospective cohort study | |
| Prateek Kumar Panda, Vyshakh Anand, Prabhjoth Kaur, Prashant Jauhari, Biswaroop Chakrabarty, Atin Kumar, Manisha Jana, M C Sharma, Vaishali Suri, Chitra Sarkar, Sheffali Gulati |
Neonatal and Fetal Neurology
| Head growth, brain growth and neurodevelopmental outcomes in preterm neonates | |
| Thiviya Selvanathan, Vann Chau, Rollin Brant, Anne Synnes, Ruth Grunau, Steven Miller |
| Health Related Quality of Life of Former Preterm Infants after Posthemorrhagic Hydrocephalus and Shunt Insertion | |
| Haim Bassan, Moran Gigi, Jonathan Roth, Rina Eshel, Shlomi Constantini |
| Application of Cerebral Function Monitor for electrical seizure-detection and neurological maturity assessment in Intrauterine Growth Restricted Neonates : A Pilot Study | |
| Jyotindra Narayan Goswami, Ashutosh Kumar, Saroj Kumar Patnaik |
| Why do neonates receive antiepileptics? | |
| Abhijeet Anant Rakshasbhuvankar, Shripada Rao, Soumya Ghosh, Lakshmi Nagarajan |
| Characteristics of exosomes in the cerebrospinal fluid of preterm infants | |
| Robert Spaull, Bryony McPherson, Andriana Gialeli, Aled Clayton, James Uney, Oscar Cordero-Llana, Axel Heep |
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 |
| Next Generation Sequencing Based Multi-gene Testing of Over 1000 Indian Patients Affected with Neurological Disorders Revealed an Improved (>40%) Diagnostic Yield | |
| Ashraf U Mannan, Aparna Ganapathy, Avshesh Mishra, Anil Vittal Kanthi, Megha Rani Soni, Irene Patric, Aparajit Sridharan, Sobha George, Lakshmi Mohan, Swathi M Chinnappa, Ankitha Prabhudev, Syama Sreedharan, Thyagarajan Chandrasekaran, Priyanka K, Mukunth Sadagopan, Aswathy S L, Vidya H K, Satish Sankaran, Shanmukh Katragadda, Vamsi Veeramachaneni, Ramesh Hariharan, Vijay Chandru |
| X linked infantile epileptic encephalopathy due to SMC1A truncating mutation - ‘An emerging phenotypic syndrome’ | |
| Ami Shah, Neeta Naik, Salil Gundewar |
| A Novel Missense Variant p.(Leu60Pro) in FAM126A Causes Leukodystrophy, Hypomyelinating, 5 | |
| Aman Elwadhi, Suvasini Sharma, Bijoy Patra, Parneet Kaur, Katta M Girisha, Anju Shukla |
| Collaborative data collection by TREAT-NMD Registries to support post-marketing surveillance in Spinal Muscular Atrophy | |
| Michela Guglieri, Joanne Bullivant, Victoria Hodgkinson, Miriam Rodrigues, Volker Straub, Hugh Dawkins, Craig Campbell, Nathalie Goemans |
| A good carpenter loves his tools: a case series highlighting the utility of the newer genetic tests | |
| Shruti Bajaj, Shantala Vadeyar, Mamta Muranjan, Pradnya Gadgil, Kshitij Sheth |
| Subtle Seizure in the form of Recurrent apnoea Beyond Neonatal Period as Initial presentation of DIGEORGE Syndrome –A Rare Case Report . | |
| BASUDEV BISWAL, TUSHITA GHOSH, rachita sarangi, ANUSPANDANA MAHAPATRA |
| Diagnostic yield of clinical exome sequencing in non-structural infantile onset epileptic encephalopathy | |
| Prashant Jauhari, Prabhjot Kaur, Aparajita Gupta, Biswaroop Chakrabarty, Sheffali Gulati |
| Copy Number Variant Sequencing reveals a 10q24.31-q24.32 haploid duplication in a Chinese family with congenital Split hand/foot malformation | |
| LI GAO |
| Mutation Analysis of genotype and clinical phenotype in children with hyperinsulinemic hypoglycemia | |
| LI GAO |
| Whole Exome Sequencing (WES) identifies PGAP3 mutation in three patients from two Saudi families with hyperphosphatasia with mental retardation syndrome 4 (HPMRS4) | |
| ELSAYED MOHAMED ALI, HAMOUD MOHAMED GALLAB |
Neurocritical care, Neurotrauma, Neuroprotection
| Our experience in the management of diffuse axonal injury patients in pediatric population and the review of literature- an institutional study. | |
| Achal Gupta, Konika Bansal, Nitin Dange |
| Early Post-Traumatic Seizures in PediatricTraumatic Brain Injury | |
| Snehal Surana, Arpita Devbrata Adhikari, Vineet Kumar, Mona Gajre, Vidya M |
Neuroradiology
| Cranial Magnetic Resonance Imaging patterns in infants with hypernatremic dehydration | |
| Gouri Rao Passi, Shailesh Gupta, Puneet Yadav |
| 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 |
| The spectrum of leukodystrophies in children: Experience at a tertiary care centre from North India | |
| Biswaroop Chakrabarty, Priyanka Madaan, Puneet Jain, Sachendra Badal, Prashant Jauhari, Atin Kumar, Manisha Jana, Neerja Gupta, Madhulika Kabra, Sheffali Gulati |
| Clinical correlates of mineralizing lenticulostriate vasculopathy (mLSV) in children | |
| Jatinder Singh Goraya |
Neuroimmunology
| Unsolved mystery:11-year-old patient with antibody negative immune-mediated necrotizing myopathy | |
| Cemal Karakas, Jeetendra Sah, Yaacov Anziska, Yoshimi Hisamoto, Radha Giridharan, Joan Cracco, Alexandra Reznikov, Geetha Chari |
| 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 |
| Effect of fingolimod in pediatric MS: further insights from sensitivity, supportive and post-hoc analyses from PARADIGMS | |
| Kumaran Deiva, Peter Huppke, Brenda Banwell, Tanuja Chitnis, Jutta Gärtner, Lauren Krupp, Emmanuelle Waubant, Tracy Stites, Gregory Lewis Pearce, Martin Merschhemke |
| Clinical profile and outcome of Acute Necrotizing Encephalopathy of Childhood (ANEC): a retrospective cohort study from a tertiary care centre of North India | |
| Sachendra Badal, Prateek Kumar Panda, Priyanka Madaan, Ankita Pal, Prashant Jauhari, Biswaroop Chakrabarty, Vishal Sondhi, Rachana Dubey, Sheffali Gulati |
| Intravenous immunoglobulin versus methyl prednisolone in children with ADEM:: a randomized controlled trial | |
| Rajniti Prasad, Gautam Goswami |
| Pediatric anti-NMDA receptor encephalitis: experience of a tertiary care teaching center in North India | |
| Biswaroop Chakrabarty, Prateek Kumar Panda, Prashant Jauhari, Vishal Sondhi, Rachana Dubey, Sheffali Gulati |
| Clinico-epidemiological profile of Opsoclonus Myoclonus Ataxia syndrome: experience of a tertiary care centre from north India | |
| Biswaroop Chakrabarty, Prabhjot Kaur, Prashant Jauhari, Vishal Sondhi, Rachana Dubey, Prateek Kumar Panda, Sheffali Gulati |
| Spectrum of Guillian Barre syndrome in children – atypical features, types, prognostic indicators and relationship to zika virus. | |
| Ishita Tewari, Chandrakanta Kumar, Ravindra Garg, Amita Jain, Rashmi Kumar |
| Brain stem encephalitis in children | |
| Kavita P Thakkar, Yoshimi Sogawa, Amy C Goldstein, Giulio Zuccoli |
| Our experience with Rituximab in two patients with anti-MuSK positive Myasthenia gravis. | |
| MESUT GUNGOR, BULENT KARA, AYFER SAKARYA GUNES |
| Intracranial Calcification, Spastic Paraparesis, Length Shortening and Immunological Disorders: Three SPENCDI Cases | |
| MESUT GUNGOR, AYFER SAKARYA GUNES, BULENT KARA |
| Acquired Central Nervous System demyelinating syndromes in children: experience of a tertiary centre from North India | |
| Priyanka Madaan, Biswaroop Chakrabarty, Prateek Kumar Panda, Juhi Gupta, Vishal Sondhi, Rachana Dubey, Atin Kumar, Manisha Jana, Sheffali Gulati |
| Anti NMDAr antibody mediated encephalitis: unusual presentation with focal motor deficits: 2 case reports | |
| pradnya gadgil, Nilima Bhalerao, Sunita Venkatraman |
Neurorehabilitation
| Effects of tDCS and HD-tDCS on motor learning and motor maps in children | |
| Adrianna Giuffre, Lauran Cole, Patrick Ciechanski, Helen Carlson, Ephrem Zewdie, HsingChing Kuo, Cynthia Kahl, Amy Webber, Megan Metzler, Ashley Harris, Adam Kirton |
| Neurorehabilitation in children with acquired brain injury: Does multidisciplinary and holistic approach lead to equitable perceived outcomes irrespective of ethnicity, injury type or severity? | |
| Amit Bali, Kayleigh Goddard, Gerard Anderson, Vivek Mundada |
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 |
| Pediatric ischemic stroke associated to deficiency of adenosine deaminase 2 (DADA2). | |
| José Albino da Paz, Tayrine Gonçalves, César Alves, Leandro Lucato |
| 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 |
| 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 |
| MoyamoyaVasculopathy : An Indian Perspective - Geno-Phenotypic correlation | |
| Shilpa Kulkarni, Thenral S, Sonam Kothari, Meenal Garg, Anaita Hegde, Krishnakumar Shah |
| Management of Acute Stroke in Pediatric Population with Moya-Moya Disease- Our Institutional Experience | |
| Achal Gupta, Konika Bansal, Nitin Dange |
| Acute Childhood stroke: observations from case series of 45 children from tertiary center in Mumbai | |
| pradnya gadgil, Vineeta m, Mihir Munshi, Guruprasad Shanbhag |
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