channelopathies/sakit kepala

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In vivo assessment of neurological channelopathies: Application of peripheral nerve excitability studies.

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With the rapid evolution of understanding of neurological channelopathies comes a need for sensitive tools to evaluate patients in clinical practice. Neurological channelopathies with a single-gene basis can manifest as seizures, headache, ataxia, vertigo, confusion, weakness and neuropathic pain

Channelopathies: ion channel defects linked to heritable clinical disorders.

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Electrical signals are critical for the function of neurones, muscle cells, and cardiac myocytes. Proteins that regulate electrical signalling in these cells, including voltage gated ion channels, are logical sites where abnormality might lead to disease. Genetic and biophysical approaches are being

A single-fibre electromyography study of neuromuscular transmission in patients with cluster headache.

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OBJECTIVE Mutations of CACNA1A, which encodes a neuronal P/Q Ca2+ channel, are present in patients with familial hemiplegic migraine, and possibly in other types of migraine as well. This calcium channel is also involved in neuromuscular transmission. In our previous study we confirmed that the

Genetics of primary headaches.

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Migraine has become an important topic in the field of complex genetic disorders. The identification of a gene on chromosome 19p encoding for an alpha 1A calcium channel subunit causing familial hemiplegic migraine has led to the classification of migraine as a channelopathy. More recently, efforts

Short-lasting unilateral neuralgiform headache attacks with ispilateral facial flushing is a new variant of paroxysmal extreme pain disorder.

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BACKGROUND We encountered a 5-year-old girl who had short-lasting, severe, unilateral temporal headaches with ipsilateral lacrimation, nasal congestion and rhinorrhoea, and facial flushing after severe attacks. Family history revealed similar short-lasting, severe headaches in an older brother,

Advances in the understanding of headache.

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Primary headache disorders account for a substantial part of the morbidity seen in medical practice and so advances in their understanding and management are of general importance. The classification of headache disorders has recently been revised, and the importance of frequent migraine, chronic

Channelopathies: potassium-related periodic paralyses and similar disorders.

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Channelopathy is a term used to describe clinical problems caused by disorders of membrane ion channels. Included in this disease category are certain types of periodic paralyses, ataxia, myotonia, migraine headache, epilepsy, nephrolithiasis, and long QT syndrome. This article briefly summarizes

Pathomechanisms in channelopathies of skeletal muscle and brain.

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Ion channelopathies are a diverse array of human disorders caused by mutations in ion channel genes. This review focuses on the pathogenic mechanisms of channelopathies affecting skeletal muscle and brain arising from mutations of voltage-gated ion channels and fast ligand-gated ion channels

Channelopathies: ion channel disorders of muscle as a paradigm for paroxysmal disorders of the nervous system.

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Some of the most common diseases in humans occur intermittently in people who are otherwise healthy and active. Such disorders include migraine headache, epilepsy, and cardiac arrhythmias. Because electrical signals are critical to the function of neurons, muscle cells, and heart cells, proteins

An integrative methodology based on protein-protein interaction networks for identification and functional annotation of disease-relevant genes applied to channelopathies.

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Biologically data-driven networks have become powerful analytical tools that handle massive, heterogeneous datasets generated from biomedical fields. Protein-protein interaction networks can identify the most relevant structures directly tied to biological functions. Functional

Episodic ataxia and channelopathies.

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Clinical details are given of different types of episodic ataxia: type 1, with myokymia, and attacks which usually last a few minutes, and may occur several times a day, and treatment with acetazolamide can reduce the number of attacks; type 2, with interictal nystagmus, and attacks which last for

Episodic ataxia type 2: an uncommon inherited CNS channelopathies.

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The author reports the first Thai patient with a rare inherited ataxic disorder characterized by intermittent episodes of ataxia, headache and vertigo. The patient was well between attacks despite persistent nystagmus on examination. Magnetic resonance imaging of the brain revealed cerebellar

Pseudomigraine with lymphocytic pleocytosis: a calcium channelopathy? Clinical description of 10 cases and genetic analysis of the familial hemiplegic migraine gene CACNA1A.

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OBJECTIVE To report the clinical findings of 10 patients diagnosed with pseudomigraine with lymphocytic pleocytosis and the results of mutational analysis of the CACNA1A gene in 8 of these patients. BACKGROUND Pseudomigraine with lymphocytic pleocytosis, also referred to as headache with neurologic

[Is there a bridge between migraine and familial mesial temporal lobe epilepsy?].

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Numerous reviews have emphasized the links between certain types of epilepsy and migraine. Historically, Gowers was one of the first, in 1907, to have drawn attention to a possible relationship between migraine headache and epilepsy in a period when no additional examination was available. In the

Coexistence of hemiplegic migraine with SUNCT or SUNA: a case series.

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BACKGROUND Hemiplegic migraine (HM) is a rare subtype of migraine with aura that includes transient hemiparesis of different degrees. The dominantly inherited type, called familial hemiplegic migraine, along with the sporadic type, in which no family history of similar attacks exists, have been

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