Varaico: Literature-Extracted Genetic Variants

Gene:GABRG2
Variant:p.L356*
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GABRG2

NM_198904.4:p.L356*

Associated Papers

Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations.

Bonanni P et al.

Epilepsia, 2004

Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.

Fujiwara T et al.

Brain : a Journal of Neurology, 2003

Lack of SCN1A mutations in familial febrile seizures.

Malacarne M et al.

Epilepsia, 2002

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."