JOURNAL ARTICLE

A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy

Snezana Maljevic, Klaus Krampfl, Joana Cobilanschi, Nikola Tilgen, Susanne Beyer, Yvonne G Weber, Friedrich Schlesinger, Daniel Ursu, Werner Melzer, Patrick Cossette, Johannes Bufler, Holger Lerche, Armin Heils
Annals of Neurology 2006, 59 (6): 983-7
16718694

OBJECTIVE: To detect mutations in GABRA1 in idiopathic generalized epilepsy.

METHODS: GABRA1 was sequenced in 98 unrelated idiopathic generalized epilepsy patients. Patch clamping and confocal imaging was performed in transfected mammalian cells.

RESULTS: We identified the first GABRA1 mutation in a patient with childhood absence epilepsy. Functional studies showed no detectable GABA-evoked currents for the mutant, truncated receptor, which was not integrated into the surface membrane.

INTERPRETATION: We conclude that this de novo mutation can contribute to the cause of "sporadic" childhood absence epilepsy by a loss of function and haploinsufficiency of the GABA(A) receptor alpha(1)-subunit, and that GABRA1 mutations rarely are associated with idiopathic generalized epilepsy.

Full Text Links

Find Full Text Links for this Article

Discussion

You are not logged in. Sign Up or Log In to join the discussion.

Related Papers

Remove bar
Read by QxMD icon Read
16718694
×

Save your favorite articles in one place with a free QxMD account.

×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"

We want to hear from doctors like you!

Take a second to answer a survey question.