- Home
- Publications
- Publication Search
- Publication Details
Title
SLC25A22is a novel gene for migrating partial seizures in infancy
Authors
Keywords
-
Journal
ANNALS OF NEUROLOGY
Volume 74, Issue 6, Pages 873-882
Publisher
Wiley
Online
2013-08-12
DOI
10.1002/ana.23998
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Novel Compound Heterozygous Mutations inTBC1D24Cause Familial Malignant Migrating Partial Seizures of Infancy
- (2013) Mathieu Milh et al. HUMAN MUTATION
- De novo mutations in epileptic encephalopathies
- (2013) et al. NATURE
- Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy
- (2012) Annapurna Poduri et al. EPILEPSIA
- The mitochondrial transporter family SLC25: Identification, properties and physiopathology
- (2012) Ferdinando Palmieri MOLECULAR ASPECTS OF MEDICINE
- De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy
- (2012) Giulia Barcia et al. NATURE GENETICS
- Novel SCN1A Mutation in a Proband With Malignant Migrating Partial Seizures of Infancy
- (2011) Emily R. Freilich et al. ARCHIVES OF NEUROLOGY
- De novo SCN1A mutations in migrating partial seizures of infancy
- (2011) D. Carranza Rojo et al. NEUROLOGY
- A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24
- (2010) Mark A. Corbett et al. AMERICAN JOURNAL OF HUMAN GENETICS
- TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy
- (2010) Antonio Falace et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy
- (2010) Manju A. Kurian et al. BRAIN
- Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
- (2010) Kaya Bilgüvar et al. NATURE
- Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture
- (2010) Timothy W Yu et al. NATURE GENETICS
- WDR62 is associated with the spindle pole and is mutated in human microcephaly
- (2010) Adeline K Nicholas et al. NATURE GENETICS
- Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations
- (2010) L. Deprez et al. NEUROLOGY
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
- Mutations in the mitochondrial glutamate carrierSLC25A22in neonatal epileptic encephalopathy with suppression bursts
- (2009) F Molinari et al. CLINICAL GENETICS
- Malignant migrating partial seizures in infancy: An epilepsy syndrome of unknown etiology
- (2009) Giangennaro Coppola EPILEPSIA
- Structure and function of mitochondrial carriers - Role of the transmembrane helix P and G residues in the gating and transport mechanism
- (2009) Ferdinando Palmieri et al. FEBS LETTERS
- A Novel Member of Solute Carrier Family 25 (SLC25A42) Is a Transporter of Coenzyme A and Adenosine 3′,5′-Diphosphate in Human Mitochondria
- (2009) Giuseppe Fiermonte et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Exome sequencing identifies the cause of a mendelian disorder
- (2009) Sarah B Ng et al. NATURE GENETICS
- De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy
- (2008) Hirotomo Saitsu et al. NATURE GENETICS
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started