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
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
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
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
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Passionate educator, researcher, and mentor dedicated to advancing knowledge and inspiring future leaders. Author of multiple research publications and an active voice in global academic forums.