hyperekplexia/kalij

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Severe normotensive metabolic alkalosis in a 2-month-old boy with hyperekplexia.

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Prijava / prijava

A 2-month-old infant with hereditary hyperekplexia, umbilical and bilateral inguinal hernias and history of poor feeding was noted to have severe normotensive metabolic alkalosis: sodium 132 mmol/L, potassium 3.4 mmol/L, chloride 77 mmol/L, pH 7.55, carbon dioxide tension 56.3 mmHg and bicarbonate

Molecular genetics of infantile nervous system channelopathies.

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Prijava / prijava

Inherited or de novo mutations in at least a dozen genes encoding ion channels may present as paroxysmal disorders during the neonatal period or first year of life. These channelopathies include genes encoding voltage-gated channels specific for sodium (SCN1A, SCN2A, SCN1B, SCN9A) and potassium

Disorders of membrane channels or channelopathies.

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Prijava / prijava

OBJECTIVE To review the structure and function of membrane ion channels with special emphasis on inherited nervous system channel disorders or channelopathies. RESULTS Channels are pores in the cell membrane. Through these pores ions flow across the membrane and depolarize or hyperpolarize the cell.

New treatment paradigms in neonatal metabolic epilepsies.

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Prijava / prijava

Neonatal seizures represent a major challenge among the epilepsies vis-à-vis seizure classification, electroclinical correlation, inherent excitability of neocortex, ontogenic characteristics of neurotransmitter receptors, and responsiveness to standard antiepileptic drugs. Each of these factors

Ion channels-related diseases.

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Prijava / prijava

There are many diseases related to ion channels. Mutations in muscle voltage-gated sodium, potassium, calcium and chloride channels, and acetylcholine-gated channel may lead to such physiological disorders as hyper- and hypokalemic periodic paralysis, myotonias, long QT syndrome, Brugada syndrome,

DPPX antibody-associated encephalitis: Main syndrome and antibody effects.

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Prijava / prijava

OBJECTIVE To report the main syndrome of dipeptidyl-peptidase-like protein 6 (DPPX) antibody-associated encephalitis, immunoglobulin G (IgG) subclass, and the antibody effects on DPPX/Kv4.2 potassium channels. METHODS A retrospective analysis of new patients and cases reported since 2013 was

Progressive encephalomyelitis with rigidity and myoclonus: a new variant with DPPX antibodies.

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Prijava / prijava

OBJECTIVE To describe a novel and distinct variant of progressive encephalomyelitis with rigidity and myoclonus (PERM) associated with antibodies directed against dipeptidyl peptidase-like protein 6 (DPPX), a regulatory subunit of the Kv4.2 potassium channels on the surface of neurons. METHODS Case

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