A5014364701- Metabolism and Genetic Disorders
- Genetics and Neurodevelopmental Disorders
- Mitochondrial Function and Pathology
- Epilepsy research and treatment
- ATP Synthase and ATPases Research
- Epigenetics and DNA Methylation
- Autophagy in Disease and Therapy
- RNA and protein synthesis mechanisms
- RNA regulation and disease
- RNA modifications and cancer
- Glycogen Storage Diseases and Myoclonus
- Neurological disorders and treatments
- Genomics and Rare Diseases
- Lysosomal Storage Disorders Research
- Biochemical and Molecular Research
- Ion Transport and Channel Regulation
- Botulinum Toxin and Related Neurological Disorders
- Diet and metabolism studies
- Biochemical Acid Research Studies
- Biotin and Related Studies
- Attention Deficit Hyperactivity Disorder
- Neonatal Health and Biochemistry
- Amino Acid Enzymes and Metabolism
- Advanced battery technologies research
- Hereditary Neurological Disorders
Garrahan Hospital
2013-2025
Columbia University Irving Medical Center
2015
Background Thymine kinase 2 (TK2) is a mitochondrial matrix protein encoded in nuclear DNA and phosphorylates the pyrimidine nucleosides: thymidine deoxycytidine. Autosomal recessive TK2 mutations cause spectrum of disease from infantile onset to adult manifesting primarily as myopathy. Objective To perform retrospective natural history study large cohort patients with deficiency. Methods The was conducted by 42 investigators across 31 academic medical centres. Results We identified 92...
The genetic diagnosis algorithm for mitochondrial (mt) diseases starts looking deletions and common mutations in mtDNA. MtDNA's special features, such as large variable genome copies, heteroplasmy, polymorphisms, its duplication the nuclear pseudogenes (NUMTs), make it vulnerable to diagnostic misleading interpretations. Multiplex Ligation-dependent Probe Amplification (MLPA) is used detect copy number variations genes application on mtDNA has not been widely spread. We report three Kearns...
To describe the clinical and molecular features of a group Argentinian pediatric patients with mitochondrial DNA (mtDNA) disorders, to evaluate results implementation classical approach for diagnosis diseases.Clinical data from 27 confirmed mtDNA pathogenic variants were obtained database 89 suspected disease, registered 2014 2020. Clinical data, biochemical analysis, neuroimaging findings, muscle biopsy studies analyzed.Patients 18 females 9 males, ages at onset ranging 1 week 14 years...
Abstract Mutations in the PRRT2 gene lead to a spectrum of diseases with common pathophysiology including self-limited (familial) infantile epilepsy and paroxysmal kinesigenic dyskinesia as well other involving movement headache disorders. Atypical phenotypes, associated episodic ataxia, epilepsy, hemiplegic migraine, developmental delay, intellectual disability, have been reported approximately 5% patients, which is probably an underestimation. Here, we present three patients variable...
Abstract We analyzed the electroclinical features, molecular findings, treatment, disease course, and outcomes of patients with Dravet syndrome (DS) positive genetic markers seen at a public hospital in Argentina. A retrospective study was conducted assessing clinical records 44 who met diagnostic criteria for DS according to 2022 classification epilepsy International League Against Epilepsy our center between March 2018 June 2023. Of patients, 35 (18 males 17 females), whom studies yielded...
Abstract Introduction GRIN1 encephalopathy is an emerging genetic entity due to de novo monoallelic or biallelic pathogenic variants in the gene that impair function of GluN1 subunit N-methyl-D-aspartate (NMDA) receptor. Here, we describe two patients with uncommon neuroradiological pattern. Cases Presentation Two boys presented a neurodevelopmental disorder characterized by severe cognitive impairment, autistic features, hand stereotyped movements, self-injurious behavior, and hyperkinetic...
Developmental and epileptic encephalopathies (DEEs) are severe forms of epilepsy characterized by seizure onset in infancy or childhood. The seizures typically drug-resistant often accompanied significant alterations the electroencephalogram (EEG). DEEs associated with neurodevelopmental impairment, which can arise from both activity itself underlying etiology, is most genetic origin. We present clinical molecular features two patients DEE a pathogenic variant UGDH gene. This gene encodes...
Leigh syndrome (LS) is a mitochondrial progressive encephalopathy characterized by bilateral symmetric necrotic lesions of the central nervous system. Maternally inherited Syndrome (MILS) represents ∼10–20% LS. Mutations in MT-ATP6 are most common, being m.8993T > C/G classical mutations. Molecular diagnosis for diseases always challenge and Multiplex ligation-dependent probe amplification (MLPA) DNA can be an initial test molecular diagnosis, although it not widely used. We present MILS...