… Fifteen mutations resulted from deamination of m CpG dinucleotides, including 5 CpGs
located in an arginine codon of the CGA class. Deamination converts this codon to UGA, a …

The human sodium channel family includes seven neuronal channels that are essential for
the initiation and propagation of action potentials in the CNS and PNS. In view of their critical …

… -cell current–voltage curve (5 mm Ba 2+ , shifted 26 mV toward more positive voltages to
account for the difference in surface potential caused by 90 mm Ba 2+ ) (cf. Tottene et al., 2002). …

Photolabile moieties are widely employed in organic chemistry and beyond as a powerful
tool for breaking bonds smoothly without the need for any additional reagents.[1] Such …

Sodium Channels synonyms for many of sodium channel isoforms. To eliminate confusion
resulting from the multiplicity of names, we propose a standardized nomenclature for Voltage-…

Generalized epilepsy with febrile seizures plus type 2 (GEFS+ 2, MIM 604233) is an autosomal
dominant disorder characterized by febrile seizures in children and afebrile seizures in …

… Both patients developed disease by the age of five and demonstrate reduced nerve conduction
velocity (2–7 m s –1 , compared with normal values of 40–50 m s –1 ). One patient had …

Mutations of the lipid phosphatase FIG4 that regulates PI(3,5)P 2 are responsible for the
recessive peripheral-nerve disorder CMT4J. We now describe nonsynonymous variants of FIG4 …

Ca 2+ channel β subunits regulate voltage-dependent calcium currents through direct interaction
with α 1 subunits. The β- and α 1 -binding motifs are conserved, and all β subunits can …

Inactivation of the β 4 subunit of the calcium channel in the mouse neurological mutant
lethargic results in a complex neurological disorder that includes absence epilepsy and ataxia. …