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GABA-A receptor

Wednesday 23 April 2008

Pathology

- Epilepsy-causing mutations found in 3 different subunits of the GABAA receptor genes:
–* GABRG2 (GEFS, CAE)
–* GABRA1 (JME, CAE)
–* GABRD (GEFS, JME ?)

Most of these mutations result in a reduction of GABA-activated Cl- currents in vitro.

Role in epilepsy with complex inheritance remains to be determined.

See also

- GABRs