Results 111 to 120 of about 1,802 (202)

Severe Microcephaly and Metabolic Epilepsy due to Asparagine Synthetase Deficiency. [PDF]

Ann Indian Acad Neurol, 2023
Saini AG, Gunasekaran PK, Chaudhary I, Bhatia V.   +3 more
europepmc   +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

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

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

Structure
Wang W.
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

Giant somatosensory evoked potentials and pathophysiology of hyperekplexia. Neurophysiological study of one patient

, 1994
EEG during wakefulness and sleep and somatosensory evoked potentials from the median nerve were recorded in a 3 year-old boy with hyperekplexia and his close relatives (parents and two sisters).
R. Ferri, S. Del Gracco, DALLA BERNARDINA, Bernardo, S. A. Musumeci, V. Colamaria, P. Bergonzi, M. Elia   +6 more
core  

A New GlyT2 Variant Associated with Hyperekplexia. [PDF]

Int J Mol Sci
Sarmiento-Jiménez J, Felipe R, Núñez E, Ferrando-Muñoz A, Benito-Muñoz C, Gago F, Vázquez J, Camafeita E, Clement E, Wilson B, López-Corcuera B.   +10 more
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

Rafiq Syndrome: Old Variant in MAN1B1 Gene and Some New Phenotypic Features. [PDF]

Iran J Child Neurol
Özgün N, Saka Güvenç M.
europepmc   +1 more source