Results 101 to 110 of about 1,995 (192)

Neuropsychiatric manifestations in hyperekplexia: A case with a novel <i>SLC6A5</i> variant. [PDF]

Dusunen Adam
Teke H, Mavi HT.
europepmc   +1 more source

Sporadic hyperekplexia [PDF]

, 2020
openaire   +1 more source

A case of childhood hyperekplexia due to a novel nonsense variant in the GLRA1 gene. [PDF]

Medicine (Baltimore)
Lin SZ, Sun XY, Tan YY, Qi YF, Jiang K.
europepmc   +1 more source

FEATURES OF A NEW HYPEREKPLEXIA-ASSOCIATED GLYT2 VARIANT

IBRO Neuroscience Reports, 2023
Jorge Sarmiento, Raquel Felipe, Araceli Vázquez-Medel, Enrique Núñez, Brian Wilson, Beatriz López-Corcuera   +5 more
doaj   +1 more source

Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay

Congenital hyperekplexia is a rare, potentially treatable neuromotor disorder. Three major genes of effect are known, and all three affect glycinergic neurotransmission. Two genes encode for subunits of the postsynaptic inhibitory glycine receptor, GLRA1
Chung, S.-K., Thomas, Rhys Huw, Hammond, C. L., Mullins, J. G. L., Drew, C. J. G., Cushion, T. D., Wood, S. E., Vanbellinghen, J.-F., Rees, M. I.   +8 more
core   +1 more source

Familial Hyperekplexia Caused by a Novel Homozygous <i>SLC6A5</i> Variant: A Case Report. [PDF]

Mol Syndromol
Yılmaz FH, Kahraman AB, Duymuş F, Koçak Eker H, Çelik H, Büyükeren M, Özcan B, Keçeci R.   +7 more
europepmc   +1 more source

A loss-of-function variant in canine GLRA1 associates with a neurological disorder resembling human hyperekplexia. [PDF]

Hum Genet, 2023
Heinonen T, Flegel T, Müller H, Kehl A, Hundi S, Matiasek K, Fischer A, Donner J, Forman OP, Lohi H, Hytönen MK.   +10 more
europepmc   +1 more source

A dual manifestation of GAD-antibody spectrum disorder: a case of progressive encephalomyelitis with rigidity, myoclonus and autoimmune epilepsy with mesial temporal sclerosis. [PDF]

BMC Neurol
Luque-Llano M, Coronel MA, Sanguino-Caneva C, Gallo-Urina S, Bermudez V, Rivera-Porras D, Vargas-Manotas J.   +6 more
europepmc   +1 more source

Breaking symmetry: Homomeric glycine receptor joins the asymmetric gating club. [PDF]

Structure
Wang W.
europepmc   +1 more source

Erratum: Characterization of the Zebrafish Glycine Receptor Family Reveals Insights Into Glycine Receptor Structure Function and Stoichiometry

Frontiers in Molecular Neuroscience, 2018
Frontiers Production Office
doaj   +1 more source