Cargando…

Mitochondrial Membrane Protein-associated Neurodegeneration due to Novel Homozygous Mutation in the C19orf12 Gene

Detalles Bibliográficos
Autores principales:	Sharawat, Indar K., Panda, Prateek K., Sherwani, Poonam, Moirangthem, Vetoni
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer - Medknow 2021
Materias:	Images in Neurology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8370141/ https://www.ncbi.nlm.nih.gov/pubmed/34447009 http://dx.doi.org/10.4103/aian.AIAN_620_20

Ejemplares similares

Leigh Syndrome and SURF1 Gene Presenting with Febrile Seizure
por: Panda, Prateek Kumar, et al.
Publicado: (2021)

Endemic Fluorosis and Cognitive Dysfunction in School Going Children: Any Link?
por: Panda, Prateek Kumar, et al.
Publicado: (2021)

Nummular Headache: A Rare Headache Type in a Child Responding to Carbamazepine and Gabapentin
por: Panda, Prateek Kumar, et al.
Publicado: (2021)

Distinctive Imaging in a Toddler with Joubert's Syndrome
por: Sharawat, Indar Kumar, et al.
Publicado: (2021)

A Young Child with Recurrent Episodes of Headaches and Vision Loss: Diagnostic Clues?
por: Panda, Prateek Kumar, et al.
Publicado: (2021)

Anti-N-methyl-d-aspartate Receptor Encephalitis Presenting as New-onset Refractory Status Epilepticus Responding to Rituximab in an Adolescent Girl
por: Panda, Prateek Kumar, et al.
Publicado: (2021)

Congenital Absence of Internal Carotid Artery and Complex Cerebral Vascular Abnormalities with Thalassemia Intermedia: A Novel Association?
por: Sherwani, Poonam, et al.
Publicado: (2020)

New-onset Seizures Due to Heroin Addiction
por: Panda, Prateek Kumar, et al.
Publicado: (2021)

Spastic Paraplegia-56 due to a Novel CYP2U1 Truncating Mutation in an Indian Boy: A New Report and Literature Review
por: Sharawat, Indar K., et al.
Publicado: (2021)

Relationship between Serum Sodium Levels and Febrile Seizure Recurrence in Children
por: Panda, Prateek K, et al.
Publicado: (2020)

Auditory- and Visual-evoked Responses in Children and Adolescents with Epilepsy
por: Panda, Prateek K, et al.
Publicado: (2020)

Developmental Delay and Epilepsy Without Gigantism: An Unusual Presentation of Soto's Syndrome Due to A Novel Mutation in the NSD1 Gene
por: Panda, Prateek Kumar, et al.
Publicado: (2022)

Toddler With Frequent Falls and Neuroregression: Imaging Clues!
por: Sharawat, Indar K, et al.
Publicado: (2020)

Association of Autism Spectrum Disorder with Pre-symptomatic Duchenne Muscular Dystrophy: Isolated Elevation of Transaminases as a Diagnostic Clue
por: Panda, Prateek K., et al.
Publicado: (2021)

CNNM2 Heterozygous Variant Presenting as Hypomagnesemia and West Syndrome: Expanding the Spectrum of CNNM2 Gene-Related Epileptic Disorders
por: Panda, Prateek K., et al.
Publicado: (2021)

Epileptic Spasms in an Infant with Incontinentia Pigmenti: Report of a Rare Case with Brief Review of the Literature
por: Sharawat, Indar Kumar, et al.
Publicado: (2020)

COVID-19 (SARS-CoV-2 Infection) and Children: Pediatric Neurologist’s Perspective
por: Panda, Prateek Kumar, et al.
Publicado: (2020)

Neuropsychological Testing in Patients in Juvenile Myoclonic Epilepsy: Are They Required in Every Patient?
por: Panda, Prateek Kumar, et al.
Publicado: (2022)

Acute Flaccid Paralysis in a Child: It Is Not Guillain-Barré Syndrome Always!
por: Panda, Prateek Kumar, et al.
Publicado: (2021)

Relationship of Levetiracetam and Serum Creatine Phosphokinase in Children with Epilepsy
por: Panda, Prateek Kumar, et al.
Publicado: (2021)

Isolated Neuropsychiatric Features with Non-functioning Pituitary Adenoma: Association or Coincidence?
por: Sharawat, Indar Kumar, et al.
Publicado: (2021)

Systematic Review and Meta-analysis of Efficacy and Safety of Melatonin and Triclofos for Inducing Adequate Sedation for Sleep Electroencephalogram in Children
por: Panda, Prateek K., et al.
Publicado: (2021)

Pediatric Acute-Onset Neuropsychiatric Syndrome with Capgras Syndrome
por: Sharawat, Indar Kumar, et al.
Publicado: (2021)

Feasibility and effectiveness of teleconsultation in children with epilepsy amidst the ongoing COVID-19 pandemic in a resource-limited country
por: Panda, Prateek Kumar, et al.
Publicado: (2020)

Safety and Efficacy of Vinpocetine as a Neuroprotective Agent in Acute Ischemic Stroke: A Systematic Review and Meta-Analysis
por: Panda, Prateek Kumar, et al.
Publicado: (2022)

Sensory processing abilities and their impact on disease severity in children with attention-deficit hyperactivity disorder
por: Panda, Prateek Kumar, et al.
Publicado: (2023)

Clinical Presentation and Outcome of Children with Brain Abscess
por: Panda, Prateek Kumar, et al.
Publicado: (2021)

Clinical Spectrum of TGM6-Related Movement Disorders: A New Report with a Pooled Analysis of 48 Patients
por: Sharawat, Indar Kumar, et al.
Publicado: (2021)

Cost-effectiveness of adrenocorticotropic hormone injection and oral prednisolone in patients with West syndrome: A comparative analysis
por: Sharawat, Indar Kumar, et al.
Publicado: (2023)

Pulmonary Embolism in Children: A Case Series
por: Agrawal, Sonam, et al.
Publicado: (2020)

COVID-19 treatment in children: A systematic review and meta-analysis
por: Panda, Prateek Kumar, et al.
Publicado: (2021)

Chromosome 1p31.1 Deletion Syndrome: Limited Expression
por: Biswal, Seba, et al.
Publicado: (2021)

Development and Validation of an Outpatient Clinical Predictive Score for the Diagnosis of Duchenne Muscular Dystrophy/Becker Muscular Dystrophy in Children Aged 2–18 Years
por: Sharawat, Indar Kumar, et al.
Publicado: (2023)

Efficacy and Tolerability of Lacosamide in Lennox–Gastaut Syndrome: A Systematic Review and Meta-analysis
por: Panda, Prateek Kumar, et al.
Publicado: (2022)

Pancytopenia without Hepatosplenomegaly: A Rare Manifestation of Extrapulmonary Tuberculosis in an Adolescent Boy
por: Yadav, K Sushrith Kumar, et al.
Publicado: (2020)

Reversible hemifacial spasm due to neurocysticercosis
por: Razdan, Sushil, et al.
Publicado: (2009)

Efficacy of a pre-specified timeline-based treatment protocol in children with acute repetitive seizures or seizure clusters
por: Sharawat, Indar Kumar, et al.
Publicado: (2023)

GNAO1-related Neurodevelopmental Disorder Presenting as Acute Encephalitis Syndrome: A Phenotypic Expansion
por: Panda, Prateek Kumar, et al.
Publicado: (2023)

Every non–obstructive hydrocephalus is not due to tuberculous basal meningitis
por: Goel, Deepak, et al.
Publicado: (2010)

Subclavian Steal Syndrome due to Takayasu Arteritis
por: George, Jerry, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_55rdj6kvkbq9pg4jhhls1nomac