Author name: premchand271

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 to disability, is increasing. This study aimed to understand the views of health professionals, educators and caregivers of pre-school children with disabilities in Malawi, Pakistan and Uganda regarding early identification, […]

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 visual abnormalities, and haematologic and endocrine dysfunctions. Worldwide there is a scarcity of available data on this. To add to this scarce data, we report the case of a young

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 plasticity and cognition. We investigated the effect of variants in RPH3A in patients with neurodevelopmental disorders (NDDs). Methods: By using trio-based exome sequencing, GeneMatcher, and screening of 100,000 Genomes Project

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 dysmorphic features. We report the case of a five-month-old male with pathological KCNT1 variant who presented with focal clonic seizures, Mongol spots, and grade two systolic murmur at the left

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 KCNH1, cause these symptoms. An uncommon mutation in KCNH1 (p.Arg357Trp) present on Exon 7, reported to replace arginine with tryptophan at codon 357 of the KCNH1 protein c.1069C>T, caused pharmacoresistant

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 patients can progress to necrosis and shedding of digits and limbs. Here we report two cases of HSAN II belonging to a Pakistani family. Individual 1, a forty five year

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 (silver hair), with large clumps of melanosomes on microscopy of hair shafts.’ One variant of this fatal discase presents withhepatospenomegaly, lymphohistiocytosis, and a combined T and B-cell immunodeficiency. The disease

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, fever, stiff neck stiff, altered consciousness, seizures along with motor deficits. The incidence of VE is estimated to be 5-10 cases per 100,000 people annually, with a mortality rate of