𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Gaucher mutation N188S is associated with myoclonic epilepsy

✍ Scribed by Laurence Kowarz; Ozlem Goker-Alpan; Sharmila Banerjee-Basu; Mary E. LaMarca; Leah Kinlaw; Raphael Schiffmann; Andreas D. Baxevanis; Ellen Sidransky

Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
91 KB
Volume
26
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

✦ Synopsis

The recent article by Montfort et al. [2004] reported a functional analysis of 13 glucocerebrosidase alleles, including mutation N188S, which they considered to be a "very mild mutation" or "modifier variant." Our clinical experience with patients carrying this mutation and preliminary protein modeling data lead us to dispute this conclusion.

πŸ“œ SIMILAR VOLUMES

A response to Kowarz et al.: Gaucher mut
A response to Kowarz et al.: Gaucher mutation c.680A>G (p.N227S) is associated with myoclonic epilepsy
✍ Magda Montfort; Amparo ChabΓ‘s; LluΓ―sa Vilageliu; Daniel Grinberg πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 88 KB

Nomenclature according to HGVS recommendations.To see the corresponding traditional nomenclature for these mutations see Monfort et al., Erratum, this issue. Mutation p.S146L (not included in the Erratum) corresponds to mutation p.S107L in the traditional nomenclature. c Current age, last age report

Parental mosaicism can cause recurrent t
Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy
✍ Christel Depienne; Alexis Arzimanoglou; Oriane Trouillard; Estelle Fedirko; StΓ©p πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 181 KB

De novo mutations in the SCN1A gene, encoding the alpha1-subunit of the neuronal voltage-gated sodium channel Nav1.1, are the most frequent genetic cause of Severe Myoclonic Epilepsy of Infancy known so far. A few mutations inherited from an asymptomatic or mildly affected parent have been reported,

The novel p.L1649Q mutation in the SCN1A
The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies
✍ Kaate R.J. Vanmolkot; Elena Babini; Boukje de Vries; Anine H. Stam; Tobias Freil πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 492 KB

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