GLUT1 deficiency syndrome in clinical practice
J Klepper - Epilepsy research, 2012 - Elsevier
GLUT1 deficiency syndrome (GLUT1DS) is caused by impaired glucose transport into brain
and is effectively treated by means of a ketogenic diet. In clinical practice the diagnosis of …
and is effectively treated by means of a ketogenic diet. In clinical practice the diagnosis of …
Epilepsy: ever-changing states of cortical excitability
It has been proposed that the underlying epileptic process is mediated by changes in both
excitatory and inhibitory circuits leading to the formation of hyper-excitable seizure networks …
excitatory and inhibitory circuits leading to the formation of hyper-excitable seizure networks …
[PDF][PDF] PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome
Benign familial infantile epilepsy (BFIE) is a self-limited seizure disorder that occurs in
infancy and has autosomal-dominant inheritance. We have identified heterozygous …
infancy and has autosomal-dominant inheritance. We have identified heterozygous …
[PDF][PDF] Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions
HY Lee, Y Huang, N Bruneau, P Roll, EDO Roberson… - Cell reports, 2012 - cell.com
Paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) is an episodic
movement disorder with autosomal-dominant inheritance and high penetrance, but the …
movement disorder with autosomal-dominant inheritance and high penetrance, but the …
Glucose transporter 1 deficiency in the idiopathic generalized epilepsies
Objective: We examined whether glucose transporter 1 (GLUT1) deficiency causes common
idiopathic generalized epilepsies (IGEs). Methods: The IGEs are common, heritable …
idiopathic generalized epilepsies (IGEs). Methods: The IGEs are common, heritable …
Cerebrospinal fluid glucose and lactate: age-specific reference values and implications for clinical practice
WG Leen, MA Willemsen, RA Wevers, MM Verbeek - 2012 - journals.plos.org
Cerebrospinal fluid (CSF) analysis is an important tool in the diagnostic work-up of many
neurological disorders, but reference ranges for CSF glucose, CSF/plasma glucose ratio …
neurological disorders, but reference ranges for CSF glucose, CSF/plasma glucose ratio …
Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency
Summary Glucose transporter 1 (GLUT1) deficiency caused by mutations of SLC2A1 is an
increasingly recognized cause of genetic generalized epilepsy. We previously reported …
increasingly recognized cause of genetic generalized epilepsy. We previously reported …
GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy
Objective: The idiopathic generalized epilepsies (IGE) are the most common genetically
determined epilepsies. However, the underlying genes are largely unknown. We screened …
determined epilepsies. However, the underlying genes are largely unknown. We screened …
Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences
A Labate, P Tarantino, M Viri, L Mumoli, M Gagliardi… - …, 2012 - Wiley Online Library
Heterozygous mutations of PRRT2, which encodes proline‐rich transmembrane protein 2,
are associated with heterogeneous phenotypes including benign familial infantile seizures …
are associated with heterogeneous phenotypes including benign familial infantile seizures …
Familial clustering of epilepsy and behavioral disorders: evidence for a shared genetic basis
DC Hesdorffer, R Caplan, AT Berg - Epilepsia, 2012 - Wiley Online Library
Purpose: To examine whether family history of unprovoked seizures is associated with
behavioral disorders in epilepsy probands, thereby supporting the hypothesis of shared …
behavioral disorders in epilepsy probands, thereby supporting the hypothesis of shared …