Biomaterial Database

A novel GLRA1 mutation in a recessive hyperekplexia pedigree. 2007

Rob J Forsyth, and Artemis D Gika, and Ieke Ginjaar, and Marina A J Tijssen

Sir James Spence Institute, Royal Victoria Infirmary, Newcastle University, Newcastle upon Tyne NE1 4LP, and Paediatric Neurology Department, St George's Hospital, London, United Kingdom. r.j.forsyth@newcastle.ac.uk

We report the identification of a novel Y228C mutation within the M1 trans-membrane domain of the GLRA1 subunit of the glycine receptor responsible for a severe recessive hyperekplexia phenotype in a Kurdish pedigree.

UI	MeSH Term	Description	Entries
D009069	Movement Disorders	Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions.	Dyskinesia Syndromes,Etat Marbre,Status Marmoratus,Movement Disorder Syndromes,Dyskinesia Syndrome,Movement Disorder,Movement Disorder Syndrome
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D010375	Pedigree	The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.	Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D003545	Cysteine	A thiol-containing non-essential amino acid that is oxidized to form CYSTINE.	Cysteine Hydrochloride,Half-Cystine,L-Cysteine,Zinc Cysteinate,Half Cystine,L Cysteine
D004252	DNA Mutational Analysis	Biochemical identification of mutational changes in a nucleotide sequence.	Mutational Analysis, DNA,Analysis, DNA Mutational,Analyses, DNA Mutational,DNA Mutational Analyses,Mutational Analyses, DNA
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013216	Reflex, Startle	A complex involuntary response to an unexpected strong stimulus. The reaction involves physical movement away from the stimulus, MUSCLE CONTRACTION and limb flexion, BLINKING, and changes in HEART RATE, BLOOD PRESSURE, and RESPIRATION.	Startle Reaction,Acoustic Startle Reflex,Reflex, Moro,Startle Response,Moro Reflex,Reaction, Startle,Reactions, Startle,Reflex, Acoustic Startle,Response, Startle,Responses, Startle,Startle Reactions,Startle Reflex,Startle Reflex, Acoustic,Startle Responses