A5026866310- Neurological disorders and treatments
- Genetics and Neurodevelopmental Disorders
- Metabolism and Genetic Disorders
- Genomics and Rare Diseases
- Obsessive-Compulsive Spectrum Disorders
- Botulinum Toxin and Related Neurological Disorders
- Mitochondrial Function and Pathology
- Neurological and metabolic disorders
- Genetic Neurodegenerative Diseases
- Pharmacological Effects and Toxicity Studies
- Infectious Encephalopathies and Encephalitis
- Immunodeficiency and Autoimmune Disorders
- Autoimmune Neurological Disorders and Treatments
- Psychosomatic Disorders and Their Treatments
- Epilepsy research and treatment
- Glycogen Storage Diseases and Myoclonus
- Diet and metabolism studies
- Neurogenetic and Muscular Disorders Research
- Body Image and Dysmorphia Studies
- Pancreatic function and diabetes
- Ion Transport and Channel Regulation
- RNA regulation and disease
- RNA and protein synthesis mechanisms
- Amino Acid Enzymes and Metabolism
- Congenital heart defects research
Texas Children's Hospital
2017-2025
Baylor College of Medicine
2015-2025
University of California, Los Angeles
2010
Epilepsy neurosurgery is a treatment option for children with refractory epilepsy. Our aim was to determine if outcomes improved over time.Pediatric epilepsy surgery patients operated in the first 11 years (1986-1997; pre-1997) were compared second (1998-2008; post-1997) differences presurgical and postsurgical variables.Despite similarities seizure frequency, age at onset, surgery, post-1997 series had more lobar/focal fewer multilobar resections, tuberous sclerosis complex cases of...
Functional movement disorder is a subtype of functional neurologic symptom syndrome involuntary physical, neurologic-type symptoms that are incongruous with "organic" disease. Throughout history, there have been outbreaks in communities; until recently, spread had confined to groups people who shared physical location. However, the era social media, new mode dissemination may arisen.
Functional (psychogenic) movement disorders (FMDs) are conditions in which affected patients develop abnormal movements that incongruous with known, organic, disorders, often associated psychological stressors.
Abstract Background Most reported patients carrying GNAO1 mutations showed a severe phenotype characterized by early‐onset epileptic encephalopathy and/or chorea. Objective The aim was to characterize the clinical and genetic features of with mild ‐related prominent movement disorders. Methods We included diagnosed disorders delayed onset (>2 years). Patients experiencing either or profound intellectual disability were excluded. Results Twenty‐four 1 asymptomatic subject included. All...
The most widely applied diagnostic criteria for Tourette syndrome (TS) and other persistent motor vocal tic disorders (PMVTD) are those included in the Diagnostic Statistical Manual (DSM) of Mental Disorders American Psychiatric Association.1 These have remained substantially unchanged past 30 years since DSM-IV was published 1994.2 DSM-5-text revised (TR) primary (Table 1) set clear standards disorders. However, an increasingly shared view among experienced clinicians is that these neither...
Abstract AMPA (α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid) receptors (AMPARs) mediate fast excitatory neurotransmission in the brain. AMPARs form by homo- or heteromeric assembly of subunits encoded GRIA1–GRIA4 genes, which only GRIA3 is X-chromosomal. Increasing numbers missense variants are reported patients with neurodevelopmental disorders (NDD), but a few have been examined functionally. Here, we evaluated impact on AMPAR function one frameshift and 43 rare identified NDD...
Abstract Background Since its localization to the NKX2‐1 gene in 2002, phenotype of disorder historically called “benign hereditary chorea” has been expanding beyond chorea. Methods The phenomenology movement disorders and other symptomatology associated with mutations were characterized after a detailed evaluation consecutive patients evaluated our clinic over past 3 years. Results We studied 5 (3 females), ages 2 31 years, confirmed pathogenic variants NKX2‐1. All exhibited chorea, gross...
Biallelic variants in the Golgi SNAP receptor complex member 2 gene (GOSR2) have been reported progressive myoclonus epilepsy with neurodegeneration. Typical clinical features include ataxia and areflexia during early childhood, followed by seizures, scoliosis, dysarthria, myoclonus. Here, we report two novel patients from unrelated families a GOSR2-related disorder genetic findings. The first patient, male compound heterozygous for GOSR2 splice site variant c.336+1G>A c.364G>A,p.Glu122Lys...
Voltage-gated sodium (Na
Opisthotonus refers to abnormal axial extension and arching of the trunk produced by excessive contractions paraspinal muscles. In childhood, posture is most often related dystonia in setting hypoxic injury or a number other acquired genetic etiologies. The condition painful, interferes with ambulation quality life, challenging treat. Therapeutic options include oral benzodiazepines, intrathecal baclofen, botulinum neurotoxin injections, deep brain stimulation. Management opisthotonus within...
Self-injurious behaviors are repetitive, persistent actions directed toward one's body that threaten or cause physical harm. These seen within a broad spectrum of neurodevelopmental and neuropsychiatric conditions, often associated with intellectual disability. Injuries can be severe distressing to patients caregivers. Furthermore, injuries life-threatening. Often, these challenging treat require tiered, multimodal approach which may include mechanical/physical restraints, behavioral...
To describe a rare pediatric presentation of monocular vision loss.
Ethical Compliance Statement: No International Review Board was required for preparation of this case report, ethical guidelines were followed to assure patient privacy maintained. Written consent from guardians acquired before obtaining video purposes education within a medical peer reviewed journal. We confirm that we have read the Journal's position on issues involved in publication and affirm work is consistent with those guidelines. Funding Sources Conflicts Interest: specific funding...