Related references
Note: Only part of the references are listed.A PIGN Mutation Responsible for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 (MCAHS1) in an Israeli-Arab Family
Morad Khayat et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)
A Novel PIGN Mutation and Prenatal Diagnosis of Inherited Glycosylphosphatidylinositol Deficiency
Taku Nakagawa et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)
Genotype-Phenotype Correlation of Congenital Anomalies in Multiple Congenital Anomalies Hypotonia Seizures Syndrome (MCAHS1)/PIGN-Related Epilepsy
Leah Fleming et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)
The Phenotype of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1: Report and Review
Natario L. Couser et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)
A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis
Juyuan Guo et al.
BMC VETERINARY RESEARCH (2015)
Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review
Claudia Castiglioni et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2015)
PRRT2 Mutant Leads to Dysfunction of Glutamate Signaling
Ming Li et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2015)
Protein mutated in paroxysmal dyskinesia interacts with the active zone protein RIM and suppresses synaptic vesicle exocytosis
Yiguo Shen et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)
Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic Congenital Diaphragmatic Hernia
P. D. Brady et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2014)
Phenotypic characterisation of canine epileptoid cramping syndrome in the Border terrier
V. Black et al.
JOURNAL OF SMALL ANIMAL PRACTICE (2014)
A Homozygous KCNJ10 Mutation in Jack Russell Terriers and Related Breeds with Spinocerebellar Ataxia with Myokymia, Seizures, or Both
D. Gilliam et al.
JOURNAL OF VETERINARY INTERNAL MEDICINE (2014)
A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry
Juyuan Guo et al.
MOLECULAR GENETICS AND METABOLISM (2014)
Idiopathic head tremor in english bulldogs
Julien Guevar et al.
MOVEMENT DISORDERS (2014)
Paroxysmal Dyskinesias Revisited: A Review of 500 Genetically Proven Cases and a New Classification
Roberto Erro et al.
MOVEMENT DISORDERS (2014)
PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy
Chihiro Ohba et al.
NEUROGENETICS (2014)
Biosynthesis and deficiencies of glycosylphosphatidylinositol
Taroh Kinoshita
PROCEEDINGS OF THE JAPAN ACADEMY SERIES B-PHYSICAL AND BIOLOGICAL SCIENCES (2014)
Canine Paroxysmal Movement Disorders
Ganokon Urkasemsin et al.
VETERINARY CLINICS OF NORTH AMERICA-SMALL ANIMAL PRACTICE (2014)
Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia
Alexander J. A. Groffen et al.
JOURNAL OF NEUROLOGY (2013)
Parallel Mapping and Simultaneous Sequencing Reveals Deletions in BCAN and FAM83H Associated with Discrete Inherited Disorders in a Domestic Dog Breed
Oliver P. Forman et al.
PLOS GENETICS (2012)
Defects in GPI biosynthesis perturb Cripto signaling during forebrain development in two new mouse models of holoprosencephaly
David M. McKean et al.
BIOLOGY OPEN (2012)
Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias
Jun-Ling Wang et al.
BRAIN (2011)
Milder phenotypes of glucose transporter type 1 deficiency syndrome
Geetha Anand et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2011)
Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN
Gal Maydan et al.
JOURNAL OF MEDICAL GENETICS (2011)
An inherited episodic head tremor syndrome in Doberman pinscher dogs
Martina Wolf et al.
MOVEMENT DISORDERS (2011)
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia
Wan-Jin Chen et al.
NATURE GENETICS (2011)
Characterization and Mode of Inheritance of a Paroxysmal Dyskinesia in Chinook Dogs
R. A. Packer et al.
JOURNAL OF VETERINARY INTERNAL MEDICINE (2010)
Definition and Classification of Hyperkinetic Movements in Childhood
Terence D. Sanger et al.
MOVEMENT DISORDERS (2010)
The expanding phenotype of GLUT1-deficiency syndrome
Knut Brockmann
BRAIN & DEVELOPMENT (2009)
GLUT1 Gene Mutations Cause Sporadic Paroxysmal Exercise-Induced Dyskinesias
Susanne A. Schneider et al.
MOVEMENT DISORDERS (2009)
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1
Arvid Suls et al.
BRAIN (2008)
Biosynthesis, remodelling and functions of mammalian GPI-anchored proteins: Recent progress
Taroh Kinoshita et al.
JOURNAL OF BIOCHEMISTRY (2008)
GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak
Yvonne G. Weber et al.
JOURNAL OF CLINICAL INVESTIGATION (2008)
Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia
M. K. Bruno et al.
NEUROLOGY (2007)
GPI anchoring of protein in yeast and mammalian cells, or: how we learned to stop worrying and love glycophospholipids
Peter Orlean et al.
JOURNAL OF LIPID RESEARCH (2007)
Ethanolamine phosphate linked to the first mannose residue of glycosylphosphatidylinositol (GPI) lipids is a major feature of the GPI structure that is recognized by human GPI transamidase
Saulius Vainauskas et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder
W Du et al.
NATURE GENETICS (2005)
Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia - New diagnostic criteria
MK Bruno et al.
NEUROLOGY (2004)
The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway
HY Lee et al.
HUMAN MOLECULAR GENETICS (2004)
Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis
S Rainier et al.
ARCHIVES OF NEUROLOGY (2004)
Muscle pain, cramps and hypertonicity
GD Shelton
VETERINARY CLINICS OF NORTH AMERICA-SMALL ANIMAL PRACTICE (2004)
Classification and definition of disorders causing hypertonia in childhood
TD Sanger et al.
PEDIATRICS (2003)
Secondary paroxysmal dyskinesias
J Blakeley et al.
MOVEMENT DISORDERS (2002)
Dyskinesia in an adult bichon frise
J Penderis et al.
JOURNAL OF SMALL ANIMAL PRACTICE (2001)