Shekeeb S. Mohammad
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View article: IV Immunoglobulin Is Associated With Epigenetic, Ribosomal, and Immune Changes in Pediatric Acute-Onset Neuropsychiatric Syndrome
IV Immunoglobulin Is Associated With Epigenetic, Ribosomal, and Immune Changes in Pediatric Acute-Onset Neuropsychiatric Syndrome Open
We propose that PANS is an epigenetic immune brain disorder with cellular epigenetic, ribosomal, and immune dysregulation. Epigenetic and immune-modulating therapies, such as IVIg, may have disease-modifying effects.
View article: Epigenetic, ribosomal, and immune dysregulation in paediatric acute-onset neuropsychiatric syndrome
Epigenetic, ribosomal, and immune dysregulation in paediatric acute-onset neuropsychiatric syndrome Open
View article: Single‐Cell <scp>RNA</scp> Seq in Sydenham Chorea Shows B Cell <i>HLA‐DR/DQ</i> Upregulation and Plasma Cell Proteasomal Activation
Single‐Cell <span>RNA</span> Seq in Sydenham Chorea Shows B Cell <i>HLA‐DR/DQ</i> Upregulation and Plasma Cell Proteasomal Activation Open
The pathogenesis of Sydenham chorea remains unclear. We report a 10‐year‐old girl presenting with subacute chorea and mild carditis following Streptococcal throat infection. Single‐cell RNA sequencing on 30,794 peripheral immune cells from…
View article: An iPSC-derived neuronal model reveals manganese’s role in neuronal endocytosis, calcium flux and mitochondrial bioenergetics
An iPSC-derived neuronal model reveals manganese’s role in neuronal endocytosis, calcium flux and mitochondrial bioenergetics Open
Manganese (Mn) is an essential trace metal required for normal biological function, yet it also poses neurotoxic risks when dysregulated. Maintaining proper intracellular and extracellular Mn levels is critical, as Mn imbalance has been im…
View article: Sensory stimulation and its role in understanding and interpreting contemporary industrial products
Sensory stimulation and its role in understanding and interpreting contemporary industrial products Open
يهتم البحث بدراسة المثير الحسي ودورهُ في فهم وتفسير المنتج الصناعي المعاصر ، تحددت مشكلة البحث بالتساؤل التالي : ما هي طبيعة المثير الحسي ودورهُ في فهم وتفسير المنتج الصناعي المعاصر؟ وتحدد هدف البحث في الكشف عن المثير الحسي ودوره في تصميم ال…
View article: The nutritional adequacy of the ketogenic diet in paediatric epilepsy: Detailed nutrient analysis and dietary recommendations
The nutritional adequacy of the ketogenic diet in paediatric epilepsy: Detailed nutrient analysis and dietary recommendations Open
Although it is commonly reported that the restrictive nature of the KD induces nutritional deficiencies, our findings indicate that a well-designed MAD can induce positive dietary changes including increased fibre intake, increased mono- a…
View article: Butyrate modifies epigenetic and immune pathways in peripheral mononuclear cells from children with neurodevelopmental disorders associated with chromatin dysregulation
Butyrate modifies epigenetic and immune pathways in peripheral mononuclear cells from children with neurodevelopmental disorders associated with chromatin dysregulation Open
Pathogenic DNA variants in chromatin-related genes cause an important minority of neurodevelopmental disorders (NDDs). Epigenetic mechanisms, including chromatin regulation, are associated with NDD etiopathogenesis. Therapeutic strategies …
View article: Medicinal Cannabis Plant Extract (NTI164) modifies epigenetic, ribosomal, and immune pathways in paediatric acute-onset neuropsychiatric syndrome
Medicinal Cannabis Plant Extract (NTI164) modifies epigenetic, ribosomal, and immune pathways in paediatric acute-onset neuropsychiatric syndrome Open
Background Paediatric acute-onset neuropsychiatric syndrome (PANS) is a syndrome of infection-provoked abrupt-onset obsessive-compulsive disorder (OCD) or eating restriction. Based on the hypothesis that PANS is an epigenetic disorder of i…
View article: The Spectrum of Neurologic Phenotypes Associated With <scp><i>NUS1</i></scp> Pathogenic Variants: A Comprehensive Case Series
The Spectrum of Neurologic Phenotypes Associated With <span><i>NUS1</i></span> Pathogenic Variants: A Comprehensive Case Series Open
Objective A growing body of evidence indicates a strong genetic overlap between developmental and epileptic encephalopathies (DEEs) and movement disorders. De novo loss‐of‐function variants in NUS1 have been recently identified in DEE case…
View article: Vitamin C Deficiency Presenting with Progressive Gait Difficulty, Myopathy, and Movement Disorder in a Toddler
Vitamin C Deficiency Presenting with Progressive Gait Difficulty, Myopathy, and Movement Disorder in a Toddler Open
View article: NDD-ECHO: A standardised digital assessment tool to capture early life environmental and inflammatory factors for children with neurodevelopmental disorders
NDD-ECHO: A standardised digital assessment tool to capture early life environmental and inflammatory factors for children with neurodevelopmental disorders Open
Neurodevelopmental disorders (NDDs), such as autism spectrum disorder (ASD), attention-deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), and Tourette syndrome are highly prevalent in childhood and are influenced b…
View article: Disorder of the Neuromuscular Junction as a Mimic of Focal Dystonia
Disorder of the Neuromuscular Junction as a Mimic of Focal Dystonia Open
View article: Genetic testing in cerebral palsy with clinical and neuroimaging variables
Genetic testing in cerebral palsy with clinical and neuroimaging variables Open
Aim To optimize genetic testing in children with cerebral palsy (CP) by using clinical and magnetic resonance imaging (MRI) variables. Method In this mixed methods study, we surveyed current approaches to genetic testing by Australian clin…
View article: Epigenetic, ribosomal, and immune dysregulation in Paediatric Acute-Onset Neuropsychiatric Syndrome
Epigenetic, ribosomal, and immune dysregulation in Paediatric Acute-Onset Neuropsychiatric Syndrome Open
Paediatric Acute-Onset Neuropsychiatric Syndrome (PANS) is characterised by abrupt onset obsessive compulsive disorder and regression in neurodevelopmental skills, triggered by infection or stress. Whether PANS is a distinct entity or part…
View article: Intravenous immunoglobulin has epigenetic, ribosomal, and immune effects in Paediatric Acute-Onset Neuropsychiatric Syndrome
Intravenous immunoglobulin has epigenetic, ribosomal, and immune effects in Paediatric Acute-Onset Neuropsychiatric Syndrome Open
Paediatric acute-onset neuropsychiatric syndrome (PANS) is characterised by infection-provoked abrupt and dramatic onset of obsessive compulsive disorder (OCD) or eating restriction, along with neurodevelopmental regression. Although the a…
View article: Single-Cell RNA Sequencing in Incontinentia Pigmenti With Neonatal Encephalopathy Reveals Broad Immune Activation Moderated by Steroids
Single-Cell RNA Sequencing in Incontinentia Pigmenti With Neonatal Encephalopathy Reveals Broad Immune Activation Moderated by Steroids Open
IP-associated loss of NEMO function is associated with a proinflammatory phenotype, that is moderated by steroids. scRNAseq provides a rationale for immune modulation in an n = 1 setting and valuable insights into the pathogenesis a…
View article: Aetiopathogenesis of infantile epileptic spasms syndrome and mechanisms of action of adrenocorticotrophin hormone/corticosteroids in children: A scoping review
Aetiopathogenesis of infantile epileptic spasms syndrome and mechanisms of action of adrenocorticotrophin hormone/corticosteroids in children: A scoping review Open
Aim To review the aetiopathogenesis of infantile epileptic spasms syndrome (IESS) and mechanisms of action of adrenocorticotrophin hormone (ACTH)/corticosteroids established in humans. Method MEDLINE, PubMed, and Embase were systematically…
View article: Pathogenic variants in chromatin‐related genes: Linking immune dysregulation to neuroregression and acute neuropsychiatric disorders
Pathogenic variants in chromatin‐related genes: Linking immune dysregulation to neuroregression and acute neuropsychiatric disorders Open
We report eight children with de novo pathogenic DNA variants in chromatin‐related genes: MORC2, CHD7, KANSL1, KMT2D, ZMYND11, HIST1HIE, EP300, and KMT2B . All children experienced infection or vaccine‐provoked neuroregression or abrupt‐on…
View article: Characterizing circulating biomarkers for childhood dementia disorders: A scoping review of clinical trials
Characterizing circulating biomarkers for childhood dementia disorders: A scoping review of clinical trials Open
Childhood dementias, a group of neurological disorders are characterised by neurocognitive decline, with physical and psychosocial impacts for individuals. With therapy available for <5 % of childhood dementias, there is a high level of u…
View article: ‘Fighting every day’: exploring caregiver quality of life and perspectives on healthcare services for children with dementia – a cross-sectional, mixed-methods study
‘Fighting every day’: exploring caregiver quality of life and perspectives on healthcare services for children with dementia – a cross-sectional, mixed-methods study Open
Objective To explore quality of life outcomes for caregivers of children with childhood dementia including the positive and negative impact of caregiving. The secondary aim was to explore caregivers’ perspectives on healthcare services for…
View article: A humanized neuronal model system reveals key roles for manganese in neuronal endocytosis, calcium flux and mitochondrial bioenergetics
A humanized neuronal model system reveals key roles for manganese in neuronal endocytosis, calcium flux and mitochondrial bioenergetics Open
Manganese (Mn) is an essential trace metal that is necessary for life. Its duality as both a crucial micronutrient and potential neurotoxicant necessitates tight control of intracellular and extracellular Mn levels. Dysregulation of Mn is …
View article: Codesign and evaluation of advanced therapeutic information resources for and with families of children with neurological conditions: a mixed methods cross-sectional study
Codesign and evaluation of advanced therapeutic information resources for and with families of children with neurological conditions: a mixed methods cross-sectional study Open
Objective Parents and caregivers of children with neurological conditions express interest in new and developing treatments and trials; however, they have limited knowledge of, and access to, reliable information. This study aims to empowe…
View article: Magnetic resonance imaging patterns of children with cerebral palsy: findings from hospital-based surveillance in Vietnam
Magnetic resonance imaging patterns of children with cerebral palsy: findings from hospital-based surveillance in Vietnam Open
BACKGROUND: Previous studies on neuroimaging in cerebral palsy (CP) identified inconsistent radiologic findings. The Magnetic Resonance Imaging Classification system (MRICS) was developed by the Surveillance of Cerebral Palsy in Europe to …
View article: International consensus definitions for infection‐triggered encephalopathy syndromes
International consensus definitions for infection‐triggered encephalopathy syndromes Open
Aim To develop standardized diagnostic criteria for ‘infection‐triggered encephalopathy syndrome (ITES)’ and five specific clinical syndromes of ITES. Method The draft definitions were based on existing criteria, standardized, and discusse…
View article: Ketogenic diet modifies ribosomal protein dysregulation in KMT2D Kabuki syndrome
Ketogenic diet modifies ribosomal protein dysregulation in KMT2D Kabuki syndrome Open
View article: ‘High hopes for treatment’: Australian stakeholder perspectives of the clinical translation of advanced neurotherapeutics for rare neurological diseases
‘High hopes for treatment’: Australian stakeholder perspectives of the clinical translation of advanced neurotherapeutics for rare neurological diseases Open
Introduction Advanced therapies offer unprecedented opportunities for treating rare neurological disorders (RNDs) in children. However, health literacy, perceptions and understanding of novel therapies need elucidation across the RND commu…
View article: Editorial: Movement disorders in neurometabolic conditions
Editorial: Movement disorders in neurometabolic conditions Open
Keywords: movement disorders, metabolic disease, mitochondrial, DBS (deep brain stimulation), neurodegeneration with brain iron accumulation (NBIA)
View article: Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations Open
This study aimed to determine the diagnostic yield of singleton exome sequencing and subsequent research-based trio exome analysis in children with a spectrum of brain malformations seen commonly in clinical practice. We recruited children…
View article: <scp><i>DHDDS</i></scp> and <scp><i>NUS1</i></scp>: A Converging Pathway and Common Phenotype
<span><i>DHDDS</i></span> and <span><i>NUS1</i></span>: A Converging Pathway and Common Phenotype Open
Background Variants in dehydrodolichol diphosphate synthetase ( DHDDS ) and nuclear undecaprenyl pyrophosphate synthase 1 ( NUS1 ) cause a neurodevelopmental disorder, classically with prominent epilepsy. Recent reports suggest a complex m…
View article: Oculomotor Apraxia as an Early Presenting Sign of Juvenile‐Onset Huntington's Disease
Oculomotor Apraxia as an Early Presenting Sign of Juvenile‐Onset Huntington's Disease Open
Juvenile onset Huntington's disease (HD), defined as symptom onset before age 21 years accounts for 5–10% of all cases of HD.1 HD is an autosomal dominant progressive neurodegenerative disorder caused by cytosine-adenine-guanine (CAG) trin…