PMC Links for Books (Select 1405612) - PMC

Select item 67821491.

Novel GLRA1 Missense Mutation (P250T) in Dominant Hyperekplexia Defines an Intracellular Determinant of Glycine Receptor Channel Gating

Brigitta Saul, Thomas Kuner, Diana Sobetzko, Wolfram Brune, Folker Hanefeld, Hans-Michael Meinck, Cord-Michael Becker

J Neurosci. 1999 Feb 1; 19(3): 869–877. doi: 10.1523/JNEUROSCI.19-03-00869.1999

PMCID:: PMC6782149

Article PDF–246K

Select item 67586782.

Benign Familial Neonatal Convulsions Caused by Altered Gating of KCNQ2/KCNQ3 Potassium Channels

Pasqualina Castaldo, Emanuele Miraglia del Giudice, Giangennaro Coppola, Antonio Pascotto, Lucio Annunziato, Maurizio Taglialatela

J Neurosci. 2002 Jan 15; 22(2): RC199. doi: 10.1523/JNEUROSCI.22-02-j0003.2002

PMCID:: PMC6758678

Abstract PDF–188K

Select item 67405023.

Glycine Receptor Knock-In Mice and Hyperekplexia-Like Phenotypes: Comparisons with the Null Mutant

Geoffrey S. Findlay, Rachel Phelan, Michael T. Roberts, Gregg E. Homanics, Susan E. Bergeson, Gregory F. Lopreato, S. John Mihic, Yuri A. Blednov, R. Adron Harris

J Neurosci. 2003 Sep 3; 23(22): 8051–8059. doi: 10.1523/JNEUROSCI.23-22-08051.2003

PMCID:: PMC6740502

Article PDF–520K

Select item 17578964.

Hyperekplexia in neonates

V Praveen, S Patole, J Whitehall

Postgrad Med J. 2001 Sep; 77(911): 570–572. doi: 10.1136/pmj.77.911.570

PMCID:: PMC1757896

Summary PDF–84K

Select item 17354645.

A novel mutation (R218Q) at the boundary between the N-terminal and the first transmembrane domain of the glycine receptor in a case of sporadic hyperekplexia

D Miraglia, G Coppola, G Bellini, P Ledaal, J Hertz, A Pascotto

J Med Genet. 2003 May; 40(5): e71. doi: 10.1136/jmg.40.5.e71

PMCID:: PMC1735464

Summary PDF–96K

Select item 17213806.

The clinical conundrum of neonatal seizures

M Levene

Arch Dis Child Fetal Neonatal Ed. 2002 Mar; 86(2): F75–F77. doi: 10.1136/fn.86.2.F75

PMCID:: PMC1721380

Summary PDF–65K

Select item 17209147.

Cerebral blood flow velocity during neonatal seizures

G Boylan, R Panerai, J Rennie, D Evans, S Rabe-Hesketh, C Binnie

Arch Dis Child Fetal Neonatal Ed. 1999 Mar; 80(2): F105–F110. doi: 10.1136/fn.80.2.f105

PMCID:: PMC1720914

Summary PDF–180K

Select item 16824198.

Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q.

T B Lewis, R J Leach, K Ward, P O'Connell, S G Ryan

Am J Hum Genet. 1993 Sep; 53(3): 670–675.

PMCID:: PMC1682419

Summary Page Browse PDF–817K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Books

Items: 8

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity