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Hemiconvulsion- hemiplegia-epilepsy syndrome associated with CACNA1A S218L mutation.
In EA2, the genetic abnormality involves the CACNA1A gene located on chromosome 19p13.
In fact, mutations of the CACNA1A gene (which encodes a voltage-dependent calcium channel) were described both in episodic ataxia type 2 and in familial hemiplegic migraine, making plausible a genetic bridge between migraine and vestibular disorders .
SCA6 is correlated with a mutation in the voltage-dependent calcium channel P/Q type, alpha 1a subunit on the 19p13 chromosome (CACNA1A; CaV2.1).
Dystonia and cerebellar atrophy in Cacna1a null mice lacking P/Q calcium channel activity.
Identification of CACNA1A large deletion in four patients with episodic ataxia.
The human CACNA1A gene encodes the al subunit of neuronal voltage-gated [Ca.sub.V]2.1 (P/Q-type) calcium channels.
Several mechanisms have been proposed to explain comorbidity of epilepsy and chronic pain (such as that characterizing migraine), such as (i) the essential role of glutamate as a mediator of the hyperexcitability in both focal seizures and migraine, considering that seizure generation and spread are mediated by synaptically released glutamate acting on AMPA receptors, while triggering of cortical spreading depression depends on NMDA receptors and spread does not require synaptic transmission; (ii) mutations in genes for the membrane ion transport proteins CACNA1A (P/Q-type voltage-gated calcium channel), ATP1A2 (Na+-K+ ATPase), and SCN1A (voltage-gated sodium channel) .
The first gene identified was CACNA1A on chromosome 19p13 that encodes the [[alpha].sub.1A] -subunit of the P/Q-type voltage-gated calcium channel (VGCC).
For example, clinical studies have demonstrated overexpression of CACNA1D ([Ca.sub.v]1.3) (L type), CACNA1A ([Ca.sub.v]2.1) (P/Q type), and CACNA1G ([Ca.sub.v]3.1) (T type) in lung cancer, and overexpression of CACNA1A ([Ca.sub.v]2.1) was associated with poor prognosis .
Baloh, "Familial migraine with vertigo: no mutations found in CACNA1A," American Journal of Medical Genetics, vol.
Familyal hemiplejik migrende CACNA1A genindeki mutasyona bagli olarak P/Q tipi kalsiyum kanallarinin disfonksiyonu gosterilmistir (3).
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