## Abstract The c‐myc oncoprotein plays a critical role in the regulation of cellular proliferation and apoptosis. To mediate these biological functions, a variety of target genes are activated or repressed by c‐myc, but few genes have yet been identified that directly mediate c‐myc's role in proli
A mutation in the GABAA receptor α1-subunit is associated with absence epilepsy
✍ Scribed by 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
- Publisher
- John Wiley and Sons
- Year
- 2006
- Tongue
- English
- Weight
- 554 KB
- Volume
- 59
- Category
- Article
- ISSN
- 0364-5134
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
The growth cone is responsible for axonal elongation and pathfinding by responding to various modulators for neurite growth, including neurotransmitters. We demonstrated an outline of the gamma aminobutyric acid (GABA) A -dependent signaling in growth cones. Here, we examined the effects of the modu
The ␣4 subunit gene of the neuronal nicotinic acetylcholine receptor (CHRNA4) has recently been identified as the first gene underlying an idiopathic partial epilepsy syndrome in human, autosomal-dominant nocturnal frontal lobe epilepsy (ADNFLE). CHRNA4 is located in the candidate region for benign
## Abstract Startle disease or hyperekplexia (STHE; MIM 149400) is a rare disorder that is characterized by marked muscular hypertonia in infancy and an exaggerated startle response to unexpected acoustic or tactile stimuli. Mutations in the gene encoding the α‐1 subunit of the inhibitory glycine r
Familial hemiplegic migraine (FHM) is a severe subtype of migraine with hemiparesis during attacks. We scanned 10 families with FHM without mutations in the CACNA1A (FHM1) and ATP1A2 (FHM2) genes. We identified the novel p.L1649Q mutation (c.4946T>A) in Na(v)1.1 sodium channel gene SCN1A (FHM3) in a