hyperekplexia/ataksija

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6 rezultatov

Hyperekplexia and sudden neonatal death.

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Prijava / prijava

Fifteen patients with hyperekplexia were identified in 3 families; diagnostic clinical characteristics were defined which allowed for early recognition and treatment. During the first 24 hours of life, spontaneous apnea and sluggish feeding effort were observed. After the first 24 hours, surviving

Genetics, an alternative way to discover, characterize and understand ion channels.

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Prijava / prijava

1. The conventional approach to understanding the structure and properties of ion channels has been to use physiological characterization. 2. Purification and molecular cloning of ion channel genes has enabled more detailed structure-function analyses to be undertaken. 3. An alternative approach to

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.

[Non-epileptic motor paroxysmal phenomena in wakefulness in childhood].

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Prijava / prijava

Paroxysmal events in childhood are a challenge for pediatric neurologists, given its highly heterogeneous clinical manifestations, often difficult to distinguish between phenomena of epileptic seizure or not. The non-epileptic paroxysmal episodes are neurological phenomena, with motor, sensory

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,

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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