Publications
Experiences of identifying pre-school children with disabilities in resource limited settings – an account from Malawi, Pakistan and Uganda
Although access to effective medical care for acutely sick children has improved globally, the number of children surviving but who may not be thriving due
Early Infantile Epileptic Encephalopathy In Asparagine-Linked Glycosylation Thirteen (ALG13) Gene Defect And Dramatic Response With Ketogenic Diet
Asparagine-linked glycosylation thirteen (ALG13) gene-related congenital disorders of glycosylation (CDGs) include early onset epileptic encephalopathy (EIEE), developmental delays (DD) with intellectual disability (ID), speech and
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder
RPH3A encodes a protein involved in the stabilization of GluN2A subunit of NMDA-type glutamate receptors at the cell surface, forming a complex essential for synaptic
Potassium Channel Subfamily T Member 1(KCNT1) Pathological Variant Causing Epilepsy Of Infancy With Migrating Focal Seizures: A Case Report
Pathological mutation of potassium channel subfamily T member 1 (KCNT1) gene causes an autosomal dominant disorder characterised by secondarily generalised seizures/migratory focal seizure, cyanosis, and
Potassium Voltage-Gated Channel Subfamily H Member 1 (KCNH1) Missense Mutation Causing Epileptic Encephalopathy And Autistic Behaviour
The phenotypically similar genetic diseases Zimmermann-Laband syndrome (ZLS) and Temple-Baraitser syndrome (TMBTS) cause neurodevelopmental problems. Mutations in the gene coding for potassium voltage-gated channel, primarily
Hereditary sensory neuropathy JPMA
Hereditary Sensory Autonomic Neuropathy II (HSAN II) is a rare genetic disorder, characterized by severe loss of pain, temperature and touch sensation. Injuries in these
Griscelli
IntroductionGriscelli Syndrome (GS) is a rare autosomal recessive disorder characterized by immunodeficiency and partial albinism’. It results in pigmentary dilution of the skin and hair
Addressing Severe Headache Challenges: The Role of High- Dose Methylprednisolone in Pediatric Viral Encephalitis
Viral encephalitis (VE) is an inflammation of the brain parenchyma caused by a viral infection. It presents with a range of neurological symptoms, including headache,
Care Provided
Neonatal seizures, Infantile & Childhood Epilepsies, Difficult to control Epilepsies, Genetic Epilepsies, Cerebral Palsy, Autism spectrum disorder, ADHD, Movement Disorder, Migraine Headaches, Meningitis & Encephalitis,
About Dr. Prem Chand
Dr. Prem Chand is a distinguished Consultant Paediatric Neurologist and Epilepsy Specialist. Dr. Prem Chand completed his postgraduate training with honors from Aga Khan University
Process evaluation of paediatric fellowship training programs at a University Hospital in Pakistan
Background Fellowship programs offer training in a subspecialty focusing on distinct and advanced clinical/academic skills. This advanced postgraduate training allows physicians, who desire a more
Aetiology, Clinical Presentation and Outcome of Patients Presenting with Acute Flaccid Paralysis in a Tertiary Care Hospital
Objective: To determine the aetiology, clinical presentation and outcome of patients presenting with acute flaccid paralysis. Study Design: Cross-sectional study. Place and Duration of Study:
Mutation Of TBC1 Domain Containing Kinase (TBCK) With Associated Intellectual Disability And Hypotonia
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies-3 (IHPRF-3) Syndrome is a rare pathology occurring due to mutations in the TBC1 domain containing kinase (TBCK).
Implications of the KIWE trial for low-income and lower-middle-income countries
We read with interest the Article reporting findings of the KIWE trial,1 which compared the ketogenic diet with antiseizure medications in infants with drug-resistant epilepsy.