Henri Gastaut [1915 - 1955]
Henri Gastaut was a renowned neurologist who passed away on July 15, 1995, at the age of 80 after a prolonged illness. Born in Monaco on April 5, 1915, Gastaut came from a modest family background and had an initially lackluster academic career, characterized by indiscipline. He…
Opitz-Kaveggia Syndrome (OKS)
Description An X-linked recessive mental retardation syndrome. Characterized by: Dysmorphic features: relative macrocephaly, hypertelorism, downslanted palpebral fissures, prominent forehead with frontal hair upsweep, broad thumbs, and halluces. Hypotonia, constipation, partial…
MED12L Variant and Its Role in Human Disease
MED12L is a gene that plays a crucial role in transcriptional coactivation of nearly all RNA polymerase II-dependent genes. It is highly…
Metabolic derangements and Autism
Disruption at any of the stages in metabolism could contribute to primary and/or secondary contributions to ASD
Migraine in childhood
Review of acute and preventative pharmacologic and non-pharmacologic treatment of pediatric migraine, including recent or ongoing clinical…
Familial (Autosomal Dominant) Focal Epilepsies
Overview: Temporal lobe epilepsy was traditionally considered an acquired condition. Causes include lesions such as: Hippocampal sclerosis…
The First Description of Tay-Sachs Disease by Warren Tay, 1881
In 1881, British ophthalmologist Warren Tay published his groundbreaking observation of a cherry-red spot on the retina of a child suffering from a neurological disorder. This momentous discovery marked the first description of what would later be known as Tay-Sachs disease, a…
