A5056205110- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Congenital heart defects research
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Epilepsy research and treatment
- Williams Syndrome Research
- Metabolism and Genetic Disorders
- Ion Transport and Channel Regulation
- Glycosylation and Glycoproteins Research
- Neurological and metabolic disorders
- Pharmacological Effects and Toxicity Studies
- Virus-based gene therapy research
- Lysosomal Storage Disorders Research
- Protein Tyrosine Phosphatases
- CRISPR and Genetic Engineering
- Family and Disability Support Research
- Data-Driven Disease Surveillance
- Neurogenetic and Muscular Disorders Research
- Drug Transport and Resistance Mechanisms
- Neurological disorders and treatments
- Language Development and Disorders
- Child Abuse and Related Trauma
- RNA modifications and cancer
- Galectins and Cancer Biology
The University of Texas Southwestern Medical Center
2017-2025
Southwestern Medical Center
2018-2025
Children's Medical Center
2018-2024
International Society of Nephrology
2018
New York University Press
2018
Cambridge University Press
2018
Autism spectrum disorder (ASD) is a collection of neurodevelopmental disorders characterized by deficits in social communication and restricted, repetitive patterns behavior or interests. ASD highly heritable, but genetically phenotypically heterogeneous, reducing the power to identify causative genes. We performed whole genome sequencing (WGS) an cohort 68 individuals from 22 families enriched for recent shared ancestry. identified average 3.07 million variants per genome, which 112,512...
Abstract Genetic variants in the SLC6A1 gene can cause a broad phenotypic disease spectrum by altering protein function. Thus, systematically curated clinically relevant genotype-phenotype associations are needed to understand mechanism and improve therapeutic decision-making. We aggregated genetic clinical data from 172 individuals with likely pathogenic/pathogenic (lp/p) functional for 184 (14.1% lp/p). Clinical were available subset of 126 individuals. explored potential variant positions...
SLC6A1 Neurodevelopmental Disorder (SLC6A1-NDD), first described in 2015, is a rare syndrome caused by mutation the gene which encodes for GABA Transporter 1 (GAT-1) protein. Epilepsy one of most common symptoms patients and often primary treatment target, though severity epilepsy variable. The impact seizures other SLC6A1-NDD on caregivers wide-ranging has not been formal disease concept study.A literature search was performed using simple term, "SLC6A1." Papers published before those did...
Phenotypic spectrum of SLC6A1-related neurodevelopmental disorders (SLC6A1-NDD) includes intellectual disability (ID), autistic (ASD), epilepsy, developmental delay, beginning from early infancy or after seizure onset, and other neurological features such as hypotonia movement disorders. Data on familial phenotypic heterogeneity have been rarely reported, thus in our study we aimed to investigate intrafamilial variability families with SLC6A1 variants. We collected clinical, laboratory...
SLC6A1-related disorder is a genetic neurodevelopmental that caused by loss of function variants in the SLC6A1 gene. Solute Carrier Family 6 Member 1 (SLC6A1) gene encodes for gamma-aminobutyric acid (GABA) transporter type (GAT1), which responsible reuptake GABA from synaptic cleft. Tight regulation levels plays an important role brain development balancing inhibitory and excitatory neuronal signaling. Consequently, individuals with can have manifestations such as developmental delay,...
Autism spectrum disorder (ASD) is a group of complex neurodevelopmental conditions affecting communication and social interaction in 2.3% children. Studies that demonstrated its genetic architecture have been mainly performed populations European ancestry. We investigate the genetics ASD an East African cohort (129 individuals) from population with higher prevalence (5%). Whole-genome sequencing identified 2.13 million private variants potentially pathogenic known genes (including CACNA1C,...
Abstract Autism spectrum disorder (ASD) comprises neurodevelopmental disorders with wide variability in genetic causes and phenotypes, making it challenging to pinpoint causal genes. We performed whole exome sequencing on a modest, ancestrally diverse cohort of 195 families, including 754 individuals (222 ASD), identified 38,834 novel private variants. In 68 ASD (~30%), we 92 potentially pathogenic variants 73 known genes, BCORL1 , CDKL5 CHAMP1 KAT6A MECP2 SETD1B . Additionally, 158 120...
Abstract Background Phelan-McDermid Syndrome (PMS) is a rare neurodevelopmental disorder characterized by global developmental delay, autism spectrum disorder, and numerous systemic complications including seizures, gastrointestinal dysfunction, renal anomalies. The Foundation (PMSF) was created to improve the quality of life people affected PMS worldwide supporting families, accelerating research, raising awareness. To further this mission, PMSF initiated Phelan-McPosium in 2016 bring...
SLC6A1-related disorder is a recently identified, rare, genetic neurodevelopmental that associated with loss-of-function variants in SLC6A1. This gene encodes GABA transporter type I responsible for re-uptake of from the synapse into pre-synaptic terminal or circulating neuroglia. Based upon retrospective review published cases and available research databases including Epi25 collective SLC6A1 Connect patient database, phenotypic spectrum broad includes developmental delay, epilepsy, autism...
Abstract Background Bainbridge-Ropers syndrome is caused by monoallelic ASXL3 variants on chromosome 18. Clinical features include dysmorphic facies, developmental delay, intellectual disability, autistic traits, hypotonia, failure to thrive, seizures and hyperventilation. Breath-holding spells with choreathetoid movements have been previously described. Case presentation We describe an 11-year old boy who has daily intractable reported since birth, feeding difficulties. He was eventually...
Abstract Objectives: Pitt-Hopkins syndrome (PTHS) is a rare genetic disorder caused by insufficient expression of the TCF4 gene. Most cases are characterized severe intellectual disability, absent speech, motor delays, and autism spectrum disorder. Many have abnormal brain imaging, dysmorphic facial features, medical comorbidities: myopia, constipation, epilepsy, apneic spells. The present case study expands existing understanding this presenting unique phenotype with higher cognitive...
Pitt-Hopkins syndrome is a rare genetic neurodevelopmental disorder characterized by intellectual disability, delayed motor development, and absent speech. Patients often show symptoms of respiratory dysrhythmia, including episodes hyperpnea followed apnea with cyanosis. These spells occur while awake do not have ictal correlate on electroencephalogram (EEG). The can become quite frequent be challenging to treat. We present case teenage patient who had very apneic that responded well...
Aspartylglucosaminuria (AGU) is a rare lysosomal storage disorder that causes stagnation of development in adolescence and neurodegeneration early adulthood. Precision therapies, including gene transfer therapy, are with goal taking advantage the slow clinical course. Understanding disease natural history identification disease-relevant biomarkers important steps trial readiness. We describe features diverse population patients AGU, potential imaging electrophysiological biomarkers. This...
Background: SLC13A5 Citrate Transporter Disorder is a rare pediatric neurodevelopmental disorder. Patients have epilepsy, developmental disability, and impaired mobility. While sleep disorders are common in children with disorders, abnormalities not been reported patients. Methods: Here, we assessed disturbances patients through caregiver surveys transgenic mouse model of deficiency. A total 26 were evaluated the Sleep Disturbance Scale for Children three times over one-year span. wake...