Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts.

PubWeight™: 1.05‹?› | Rank: Top 15%

🔗 View Article (PMID 19780765)

Published in Clin Genet on August 01, 2009

Authors

F Molinari1, A Kaminska, G Fiermonte, N Boddaert, A Raas-Rothschild, P Plouin, L Palmieri, F Brunelle, F Palmieri, O Dulac, A Munnich, L Colleaux

Author Affiliations

1: Laboratoire de génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (INSERM U781), Hôpital Necker-Enfants Malades, Université Paris Descartes, Paris, France. florence.molinari@inserm.fr

Articles citing this

SLC25A22 is a novel gene for migrating partial seizures in infancy. Ann Neurol (2013) 2.28

Genetic and biologic classification of infantile spasms. Pediatr Neurol (2011) 1.40

Genetic testing in epilepsy: what should you be doing? Epilepsy Curr (2011) 1.39

Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum. Brain (2013) 1.19

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function. Eur J Hum Genet (2011) 1.08

Mitochondrial transporters of the SLC25 family and associated diseases: a review. J Inherit Metab Dis (2014) 1.05

Physiological and pathological roles of mitochondrial SLC25 carriers. Biochem J (2013) 1.00

Advancing epilepsy genetics in the genomic era. Genome Med (2015) 0.97

Epileptic encephalopathies: new genes and new pathways. Neurotherapeutics (2014) 0.93

SLC25A23 augments mitochondrial Ca²⁺ uptake, interacts with MCU, and induces oxidative stress-mediated cell death. Mol Biol Cell (2014) 0.92

Treatment of mitochondrial disorders. Curr Treat Options Neurol (2014) 0.90

Genetic forms of epilepsies and other paroxysmal disorders. Semin Neurol (2014) 0.84

CDKL5 and ARX mutations in males with early-onset epilepsy. Pediatr Neurol (2013) 0.84

Mitochondria and neonatal epileptic encephalopathies with suppression burst. J Bioenerg Biomembr (2010) 0.81

Clinical review of genetic epileptic encephalopathies. Eur J Med Genet (2012) 0.81

SPTAN1 encephalopathy: distinct phenotypes and genotypes. J Hum Genet (2015) 0.80

Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly. Hum Mol Genet (2014) 0.80

Occurrence and clinical features of epileptic and non-epileptic paroxysmal events in five children with Pallister-Killian syndrome. Eur J Med Genet (2012) 0.80

Diagnosis and management of epileptic encephalopathies in children. Epilepsy Res Treat (2013) 0.77

Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay. J Inherit Metab Dis (2017) 0.75

Inhibition of the Mitochondrial Glutamate Carrier SLC25A22 in Astrocytes Leads to Intracellular Glutamate Accumulation. Front Cell Neurosci (2017) 0.75

Articles by these authors

Conservation of the Caenorhabditis elegans timing gene clk-1 from yeast to human: a gene required for ubiquinone biosynthesis with potential implications for aging. Mamm Genome (1999) 9.96

Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet (1997) 6.08

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet (2004) 5.76

Biochemical and molecular investigations in respiratory chain deficiencies. Clin Chim Acta (1994) 4.93

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. J Med Genet (2006) 4.64

Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat Genet (1997) 4.26

Hirschsprung disease, associated syndromes and genetics: a review. J Med Genet (2007) 4.13

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature (1994) 4.04

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet (2001) 3.86

The Emerging Risk Factors Collaboration: analysis of individual data on lipid, inflammatory and other markers in over 1.1 million participants in 104 prospective studies of cardiovascular diseases. Eur J Epidemiol (2007) 3.81

Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature (2000) 3.61

Complete DNA sequence of yeast chromosome XI. Nature (1994) 3.51

Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. Nat Genet (1996) 3.51

Universal code equivalent of a yeast mitochondrial intron reading frame is expressed into E. coli as a specific double strand endonuclease. Cell (1986) 3.48

Mutations of the TWIST gene in the Saethre-Chotzen syndrome. Nat Genet (1997) 3.37

Clinical features of 52 neonates with hyperinsulinism. N Engl J Med (1999) 3.35

Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature (1994) 3.33

Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The French Spinal Muscular Atrophy Investigators. Lancet (1990) 3.12

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat Genet (1995) 3.09

Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome. Lancet (1989) 2.98

Pathogenesis, diagnosis and treatment of Rasmussen encephalitis: a European consensus statement. Brain (2005) 2.88

Identification of the gene causing mucolipidosis type IV. Nat Genet (2000) 2.87

Purification and characterization of the in vitro activity of I-Sce I, a novel and highly specific endonuclease encoded by a group I intron. Nucleic Acids Res (1990) 2.79

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. Nat Genet (2001) 2.77

Practical management of hyperinsulinism in infancy. Arch Dis Child Fetal Neonatal Ed (2000) 2.70

Mutant WD-repeat protein in triple-A syndrome. Nat Genet (2000) 2.54

Leber congenital amaurosis. Mol Genet Metab (1999) 2.52

19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation. J Med Genet (2009) 2.37

Neuroimaging features of neurodegeneration with brain iron accumulation. AJNR Am J Neuroradiol (2011) 2.30

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). Nat Genet (1998) 2.30

Clinical and genetic heterogeneity in retinitis pigmentosa. Hum Genet (1990) 2.26

In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. J Med Genet (2003) 2.26

A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nat Genet (1995) 2.24

Changing clinical presentation and survival in HIV-associated tuberculosis after highly active antiretroviral therapy. J Acquir Immune Defic Syndr (2001) 2.24

Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). J Med Genet (2005) 2.24

Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study. Lancet (1999) 2.18

An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript. Nat Genet (1998) 2.16

Primary aneurysmal bone cysts in children: percutaneous sclerotherapy with absolute alcohol and proposal of a vascular classification. Pediatr Radiol (2012) 2.15

Structure and organization of the human survival motor neurone (SMN) gene. Genomics (1996) 2.12

Congenital lumbosacral lipomas. Childs Nerv Syst (1997) 2.11

Magnetic resonance imaging in antenatal diagnosis of tuberous sclerosis. Lancet (1992) 2.09

A simple, effective and well-tolerated treatment regime for West syndrome. Dev Med Child Neurol (1994) 2.07

The epsilon4 allele of the apolipoprotein E gene as a potential protective factor for exudative age-related macular degeneration. Am J Ophthalmol (1998) 2.04

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nat Genet (1996) 2.01

Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis. J Med Genet (2005) 2.00

Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes. Hum Mol Genet (2001) 2.00

A gene for hereditary multiple exostoses maps to chromosome 19p. Hum Mol Genet (1994) 2.00

Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency. Lancet (2000) 2.00

Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. Eur J Hum Genet (1998) 1.97

X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nat Genet (1994) 1.97

Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis. Prenat Diagn (2001) 1.95

Superior temporal sulcus anatomical abnormalities in childhood autism: a voxel-based morphometry MRI study. Neuroimage (2004) 1.93

A framework to study the cortical folding patterns. Neuroimage (2004) 1.90

Inhibition of respiration under the control of azide uptake by mitochondria. Eur J Biochem (1967) 1.83

FGFR2 mutations in Pfeiffer syndrome. Nat Genet (1995) 1.82

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J Med Genet (2005) 1.80

Medical treatment of Rasmussen's syndrome (chronic encephalitis and epilepsy): effect of high-dose steroids or immunoglobulins in 19 patients. Neurology (1994) 1.79

A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10. Nat Genet (1993) 1.79

Partial or near-total pancreatectomy for persistent neonatal hyperinsulinaemic hypoglycaemia: the pathologist's role. Histopathology (1998) 1.78

Stiripentol in severe myoclonic epilepsy in infancy: a randomised placebo-controlled syndrome-dedicated trial. STICLO study group. Lancet (2000) 1.76

Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria. EMBO J (2001) 1.74

Kinetics of succinate uptake by rat-liver mitochondria. FEBS Lett (1969) 1.73

Direct methods for measuring metabolite transport and distribution in mitochondria. Methods Enzymol (1979) 1.73

Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC) J Clin Invest (2000) 1.72

Bilateral parasagittal parietooccipital polymicrogyria and epilepsy. Ann Neurol (1997) 1.72

Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome. Am J Hum Genet (1998) 1.72

Kinetic study of the dicarboxylate carrier in rat liver mitochondria. Eur J Biochem (1971) 1.71

CpG dinucleotides are mutation hot spots in phenylketonuria. Genomics (1989) 1.70

Pyridoxine dependent epilepsy: a suggestive electroclinical pattern. Arch Dis Child Fetal Neonatal Ed (1999) 1.69

Identification and functional reconstitution of the yeast peroxisomal adenine nucleotide transporter. EMBO J (2001) 1.68

CHARGE syndrome: report of 47 cases and review. Am J Med Genet (1998) 1.68

Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. Am J Hum Genet (2000) 1.68

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease. Hum Mol Genet (1995) 1.68

Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France. Am J Hum Genet (1988) 1.66

7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover. Am J Hum Genet (1996) 1.64

Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy. J Clin Invest (1997) 1.64

A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency. Hum Mol Genet (2000) 1.62

Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation. J Med Genet (2000) 1.62

Genome search for susceptibility loci of common idiopathic generalised epilepsies. Hum Mol Genet (2000) 1.61

Migrating partial seizures in infancy: a malignant disorder with developmental arrest. Epilepsia (1995) 1.60

Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q. Nat Genet (1993) 1.60

Orthotopic liver transplantation for mitochondrial respiratory chain disorders: a study of 5 children. Transplantation (2001) 1.59

Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome. Hum Mol Genet (1995) 1.59

Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. J Clin Invest (1998) 1.58

MR findings in infantile Refsum disease: case report of two family members. AJNR Am J Neuroradiol (1992) 1.58

Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency. Am J Hum Genet (1989) 1.58

Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome. Hum Genet (2000) 1.56

Quantitative correlation between the distribution of anions and the pH difference across the mitochondrial membrane. Eur J Biochem (1970) 1.56

Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis. Eur J Hum Genet (2001) 1.55

Early epileptic encephalopathy with suppression bursts and olivary-dentate dysplasia. Neuropediatrics (1992) 1.55

Early diagnosis of subependymal giant cell astrocytoma in children with tuberous sclerosis. J Neurol Neurosurg Psychiatry (1999) 1.55

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nat Genet (2001) 1.55

A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3. Am J Hum Genet (1999) 1.54

Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly. Hum Mol Genet (1999) 1.53

Antiepileptic drugs as a cause of worsening seizures. Epilepsia (1998) 1.52