The aim of this clinical narrative review is to summarize and critically appraise the literature
on the differential diagnosis of hypocalcemia and to provide its correct management …

Primary familial brain calcification (PFBC), also known as Fahr's disease, is a rare inherited
disorder characterized by bilateral calcification in the basal ganglia according to …

We are living in an unparalleled era of epilepsy gene discovery. Advances in clinical care
from this progress are already materializing through improved clinical diagnosis and …

FILTUS is a stand-alone tool for working with annotated variant files, eg when searching for
variants causing Mendelian disease. Very flexible in terms of input file formats, FILTUS offers …

Many conditions can present with accumulation of calcium in the brain and manifest with a
variety of neurological symptoms. Brain calcifications can be primary (idiopathic or genetic) …

As a pathological condition, epilepsy is caused by abnormal neuronal discharge in brain
which will temporarily disrupt the cerebral functions. Epilepsy is a chronic disease which …

The genetic channelopathies are a broad collection of diseases. Many ion channel genes
demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made …

The α4β2 nAChRs are crucial ion channels that control neurotransmitter release and play a
role in various physiologic and pathologic processes. CHRNA4 encodes the α4‐nAChRs …

Background Primary familial brain calcification (PFBC) is a rare inheritable
neurodegenerative disease characterized by bilateral calcification in different brain regions …

Primary familial brain calcification (PFBC), otherwise known as Fahr's disease, is a rare
autosomal dominant condition with manifestations of movement disorders, neuropsychiatric …