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Mutations in the mitochondrial glutamate carrierSLC25A22in neonatal epileptic encephalopathy with suppression bursts
- Source :
- Clinical Genetics. 76:188-194
- Publication Year :
- 2009
- Publisher :
- Wiley, 2009.
-
Abstract
- Neonatal epileptic encephalopathies with suppression bursts (SBs) are very severe and relatively rare diseases characterized by neonatal onset of seizures, interictal electroencephalogram (EEG) with SB pattern and very poor neurological outcome or death. Their etiology remains elusive but they are occasionally caused by metabolic diseases or malformations. Studying an Arab Muslim Israeli consanguineous family, with four affected children presenting a severe neonatal epileptic encephalopathy, we have previously identified a mutation in the SLC25A22 gene encoding a mitochondrial glutamate transporter. In this report, we describe a novel SLC25A22 mutation in an unrelated patient born from first cousin Algerian parents and presenting severe epileptic encephalopathy characterized by an EEG with SB, hypotonia, microcephaly and abnormal electroretinogram. We showed that this patient carried a homozygous p.G236W SLC25A22 mutation which alters a highly conserved amino acid and completely abolishes the glutamate carrier's activity in vitro. Comparison of the clinical features of patients from both families suggests that SLC25A22 mutations are responsible for a novel clinically recognizable epileptic encephalopathy with SB.
- Subjects :
- Male
medicine.medical_specialty
Microcephaly
Amino Acid Transport System X-AG
DNA Mutational Analysis
Molecular Sequence Data
Encephalopathy
Neonatal onset
medicine.disease_cause
Mitochondrial Membrane Transport Proteins
Infant, Newborn, Diseases
Mitochondrial Proteins
Epilepsy
Internal medicine
Genetics
Humans
Medicine
Family
Ictal
Genetics (clinical)
Mutation
Base Sequence
business.industry
Infant, Newborn
Glutamate receptor
Membrane Transport Proteins
medicine.disease
Hypotonia
Mitochondria
Pedigree
Endocrinology
Female
medicine.symptom
business
Subjects
Details
- ISSN :
- 13990004 and 00099163
- Volume :
- 76
- Database :
- OpenAIRE
- Journal :
- Clinical Genetics
- Accession number :
- edsair.doi.dedup.....c2055de68e67b43483ef468b1dab5047