A5066040816- Genetics and Neurodevelopmental Disorders
- Epilepsy research and treatment
- Genomics and Rare Diseases
- Polyomavirus and related diseases
- Tuberous Sclerosis Complex Research
- Neuroscience and Neuropharmacology Research
- Neurological disorders and treatments
- Genomic variations and chromosomal abnormalities
- Connective tissue disorders research
- Carbohydrate Chemistry and Synthesis
- Ion channel regulation and function
- Cardiac electrophysiology and arrhythmias
- Neonatal and fetal brain pathology
- Genetic Neurodegenerative Diseases
- EEG and Brain-Computer Interfaces
- Glycogen Storage Diseases and Myoclonus
- Glycosylation and Glycoproteins Research
- Homicide, Infanticide, and Child Abuse
- Renal and related cancers
- Functional Brain Connectivity Studies
- Neuroinflammation and Neurodegeneration Mechanisms
- Child Abuse and Trauma
- Lysosomal Storage Disorders Research
- Neurofibromatosis and Schwannoma Cases
- Metabolism and Genetic Disorders
Texas Children's Hospital
2019-2024
Baylor College of Medicine
2015-2024
Baylor University
2022
Washington University in St. Louis
2013-2015
University of California, Irvine
2012
The SYNGAP1 gene encodes for a small GTPase-regulating protein critical to dendritic spine maturation and synaptic plasticity. Mutations have recently been identified cause breadth of neurodevelopmental disorders including autism, intellectual disability, epilepsy. purpose this work is define the phenotypic spectrum mutations identify potential biomarkers clinical severity developmental progression. A retrospective data analysis individuals with was conducted. Data included genetic...
A potential link between GABRD encoding the δ subunit of extrasynaptic GABAA receptors and neurodevelopmental disorders has largely been disregarded due to conflicting conclusions from early studies. However, we identified seven heterozygous missense variants in 10 patients with generalized epilepsy. One variant occurred two sibs healthy parents presumed somatic mosaicism, another segregated disease three affected family members, remaining five de novo sporadic patients. Electrophysiological...
Filicide-suicide, or murder of a child by parent followed suicide, has an unknown incidence in both the general and disabled population. As there is no national database, authors examined known associated factors newspaper reports to characterize filicide-suicide victims perpetrators involving children with disabilities. A search was conducted using LexisNexis NewsBank: Access World News databases through University California, Irvine Library's Web site. Age, gender parent, method used,...
Precision medicine for Mendelian epilepsy is rapidly developing. We describe an early infant with severely pharmacoresistant multifocal epilepsy. Exome sequencing revealed the de novo variant p.(Leu296Phe) in gene KCNA1, encoding voltage-gated K+ channel subunit KV 1.1. So far, loss-of-function variants KCNA1 have been associated episodic ataxia type 1 or Functional studies of mutated oocytes a gain-of-function caused by hyperpolarizing shift voltage dependence. Leu296Phe channels are...
Abstract SCN2A gene-related early-infantile developmental and epileptic encephalopathy (EI-DEE) is a rare severe disorder that manifests in early infancy. mutations affecting the fast inactivation gating mechanism can result altered voltage dependence incomplete of encoded neuronal Nav1.2 channel lead to abnormal excitability. In this study, we evaluated clinical data seven missense variants associated with DEE performed molecular dynamics simulations, patch-clamp electrophysiology dynamic...
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...
Intragenic copy number variations involving the CAMTA1 (calmodulin-binding transcription activator 1) gene have recently been reported in four unrelated families with intellectual disability (ID), ataxia, behavioral- and cerebellar-abnormalities. We report a detailed phenotypic molecular characterization of three individuals novel intragenic deletions from two compare findings to those previously patients. Our patients had exons 6-11 presented ID, developmental delay (DD), attention deficit...
Congenital disorders of glycosylation encompass a group diseases resulting from abnormal protein glycosylation.This includes more than 20 described diseases. 1PMM2-CDG, previously referred to as congenital disorder type 1a (CDG 1a), is the most common glycosylation.PMM2-CDG associated with autosomal recessive inheritance mutation in PMM2 gene.This causes deficiency phosphomannomutase, an enzyme coded by PMM2, and results decreased GDPmannose production, N-linked oligosaccharides, clinical...
BACKGROUND: Surgery has become integral in treating children with tuberous sclerosis complex (TSC)–related drug-resistant epilepsy (DRE). OBJECTIVE: To describe outcomes of a multimodal diagnostic and therapeutic approach comprising invasive intracranial monitoring surgical treatment compare the complementary techniques open resection magnetic resonance–guided laser interstitial thermal therapy. METHODS: Clinical radiographic data were prospectively collected for pediatric patients...
Abstract Stereoelectroencephalography (SEEG) has experienced an explosion in use due to a shifting understanding of epileptic networks and wider application minimally invasive epilepsy surgery techniques. Both subdural electrode (SDE) monitoring SEEG serve important roles defining the epileptogenic zone, limiting functional deficits, formulating most effective surgical plan. Strengths include ability sample difficult reach, deep structures brain without craniotomy disrupting dura. is...
In carefully selected patients with medically refractory epilepsy, disconnective hemispherotomy can result in significant seizure freedom; however, incomplete disconnection ongoing seizures and poses a challenge. Completion provides an opportunity to finish the disconnection. We describe use of magnetic resonance-guided laser interstitial thermal ablation (MRgLITT) for completion hemispherotomy.Patients treated using MRgLITT at our institution were identified. Procedural outcomes evaluated...
Koolen-de Vries syndrome (KdVS) is a genetic condition caused by 17q21.31 microdeletions or pathogenic variants in KANSL1. Affected patients most commonly exhibit some all of the following: neonatal hypotonia, developmental impairment, facial dysmorphic features, and congenital malformations. Epilepsy occurs approximately half, often with phenotypes on epilepsyaphasia spectrum. We describe six children KdVS found to have continuous spike-wave sleep (CSWS) EEG, four whom were diagnosed...
To describe the effect of rituximab on seizure burden in patients with Rasmussen encephalitis treated at Texas Children's Hospital.
ABSTRACT Mutations in the SCN2A gene encoding Na v 1.2 sodium channel can lead to neurodevelopmental disorders. We studied N1662D variant associated with severe early-onset developmental and epileptic encephalopathy (DEE). The mutation almost completely prevented fast inactivation without affecting activation. comparison of wild-type structures suggested that ambifunctional hydrogen bond formation between residues N1662 Q1494 is essential for inactivation. Fast could also be engineered...
May 5, 2019April 9, 2019Free AccessPhenotypic Characterization of Individuals with SYNGAP1 Pathogenic Variants Reveals Correlation Between Posterior Dominant Rhythm and Developmental Progression (P1.6-033)Andres Jimenez-Gomez, Sizhe Niu, Fabiola Andujar-Perez, Elizabeth McQuade, Alfred Balasa, David Huss, Rohini Coorg, Michael Quach, Sherry Vinson, Sarah Risen, Jimmy HolderAuthors Info & AffiliationsApril 2019 issue92 (15_supplement)https://doi.org/10.1212/WNL.92.15_supplement.P1.6-033...
Abstract Introduction Burst suppression is a finding on electroencephalography (EEG) associated with severe encephalopathy coma, infantile-onset epilepsy syndromes, hypothermia, or may be medically induced by general anesthesia. It presents as pattern of alternating high-voltage, 75-250µV, activity separated periods amplitude dampening, less than 5µV, electrical brain activity1. The duration the burst’s 1-20 seconds while lasts longer 10 seconds1. When not induced, burst known marker poor...