Presentations and Authors


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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
Reanalysis of the whole exome sequencing raw data and the clinical information can yield additional diagnosis missed by previously commercial genetic test report in children with epilepsy and intellectual disability
Jinliang Li, Kai Gao, Yuwu Jiang
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Neurocritical care, Neurotrauma, Neuroprotection

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Neuroradiology

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Vacuolar leukodystrophy revealing COX10 mutation
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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
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Effect of fingolimod in pediatric MS: further insights from sensitivity, supportive and post-hoc analyses from PARADIGMS
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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
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Brain stem encephalitis in children
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Neurorehabilitation

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Stroke & Neurovascular Disorders

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Factors influencing long term outcomes in childhood arterial ischemic stroke
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Intraarterial Embolectomy in Pediatric Arterial Ischemic Stroke
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