Migraines in mice?

Article Abstract:

The role of ion channel mutations in the pathogenesis of familial hemiplegic migraine (FHM) and episodic ataxia type-2 (EA-2) was analyzed in mice exhibiting tottering (tg) and mutations. The mutant mice exhibited neuromuscular symptoms such as mild ataxia and intermittent convulsions which are similar to human FMH and EA-2. The coordinated spasms of tottering mice are caused by defective voltage-dependent calcium channel alpha A1 subunits which are encoded by a gene that is homologous to the human alpha A1 subunit gene.

Physiological aspects, Mice, Mice (Rodents), Genetic disorders, Movement disorders, Neurologic manifestations of general diseases, Neurologic manifestations

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Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4

Article Abstract:

Mapping a locus for familial hemiplegic migraine (FHM) and episodic ataxia type-2 (EA-2) to chromosome 19p13 identified a human cDNA highly related to a brain-specific voltage gated P/Q-type calcium channel alpha1 subunit. Designated CACNL1A4, the gene had a molecular mass of 300 kb and contained 47 exons. DNA sequence analysis identified repeat sequences of CA and CAG in the 3'-UTR region and different types of deleterious mutations in FHM and EA-2.

Calcium channels, Ataxia

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High rate of mosaicism in tuberous sclerosis complex

Article Abstract:

Mosaicism occurred in six of 62 unrelated families with tuberous sclerosis complex. All 62 families had a known mutation in one of the tuberous sclerosis complex (TSC) genes, either TSC1 or TSC2. Somatic mosaicism was associated with a mild TSC phenotype. Gonadal mosaicism was detected in one family, with a possibility of somatic mosaicism as well.

Mosaicism, Tuberous sclerosis

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