developmental and epileptic encephalopathy
SYNGAP1 encephalopathyA distinctive generalized developmental and epileptic encephalopathy
... 25%. Developmental delay preceded seizure onset in 54 of 56 (96%) patients for whom early developmental history was ...available. Developmental plateauing or regression occurred with seizures in 56 ...
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Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy
... QARS (OMIM #615760) encodes a glutaminyl-tRNA synthe- tase responsible for linking tRNA with amino acids. 1 This ami- noacylation is essential for translation of mRNA to proteins. 2 Drosophila studies have shown that ...
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Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations
... with developmental and epileptic encephalopathy and 200 healthy parents) and eval- uated the potential functional impact of SNVs and InDels by the precomputed genomic variants score from database for ...
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Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report
... DEE: Developmental and epileptic encephalopathy; DMSO: Dimethyl sulfoxide; EEG: Electroencephalogram; LCL: Lymphoblastoid cell lines; MRI: Magnetic resonance imaging; NgBR: Nogo-B receptor; NMD: ...
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FHF1 (FGF12) epileptic encephalopathy
... Patient 1 (P1, table) is a 3-year-old boy. Convul- sive seizures began on day 2 of his life and remain intractable, with frequent status epilepticus (SE) manifesting as generalized or right-sided facial seiz- ures. His ...
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Child Neurology: Dravet syndromeWhen to suspect the diagnosis
... Dravet syndrome (DS), previously known as severe myoclonic epilepsy in infancy (SMEI), is an epileptic encephalopathy that presents with prolonged seizures in the first year of life. The sei- zures often ...
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Critical roles of αII spectrin in brain development and epileptic encephalopathy
... the developmental defects observed in rat neurons expressing EIEE5 SPTAN1 mutations are also present in human neurons, we generated induced pluripotent stem cells (iPSCs) from fibroblasts obtained from 2 control ...
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Pathogenic mutations in ARX, CDKL5 and STXBP1 genes are not associated with the early-onset epileptic encephalopathy in Malaysian pediatric patients: A pilot study
... study. Developmental and neurological examinations were normal in the recruited patients suggesting the causative mutations are likely to be associated with more severe clinical ...
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The protocol for the Cannabidiol in children with refractory epileptic encephalopathy (CARE-E) study: a phase 1 dosage escalation study
... Baseline Phase: Following the recruitment visit, partic- ipants will be sent home for one month with no change to their current anticonvulsant therapy, ketogenic diet, or Vagal Nerve Stimulator settings. Caregivers will ...
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Pathogenic Mechanisms underlying the Early Epileptic Encephalopathy CDKL5 Disorder
... To investigate the pathogenic mechanisms underlying RTT, several mouse models harboring different Mecp2 loss-of-function mutations have been developed and characterized (Brendel et al., 2011; Chen et al., 2001; Goffin et ...
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Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy
... The patient was conceived via in-vitro fertilization. She was born at 30-weeks gestation by C-section following a dizygotic twin pregnancy complicated by diet-controlled gestational diabetes. She did not require ...
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Autism spectrum disorder and epileptic encephalopathy: common causes, many questions
... of epileptic encephalopathy and ASD. Certain types of epileptic encephalopathy are more commonly associ- ated with development of ASD, including ...between epileptic ...
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GNAO1 encephalopathy
... and epileptic encephalopathy to a milder pheno- type, featuring moderate developmental delay associated with complex stereotypies, mainly facial dyskinesia and mild ...
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Pearls & Oy-sters: Familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency
... • The same MTHFR genotype is not strictly pre- dictive of the clinical phenotype and outcome. Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessive disease included in the group of ...
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In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery
... Genome-wide prioritization. The updated list of established epileptic encephalopathy genes was used to form a new reference set. This reference set (n 5 51; table e-1) was used to prioritize the 13,157 and ...
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Practice variation in anti-epileptic drug use for neonatal hypoxic-ischemic encephalopathy among regional NICUs
... Our study has some limitations. Referral biases exist because some neonates may have died prior to referral to the CHND NICU. Coding differences in AED use may exist between centers despite electronic acquisition of data ...
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PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins
... PLAA binds ubiquitin through two UBDs, a high-affinity WD40 b-propeller, and a lowaffinity PFU PLAA family of Ub-binding domain.21,22 PLAA is the highly conserved ortholog of yeast Ufd3/[r] ...
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Neuro developmental outcome of preterm babies with hypoxic ischemic encephalopathy
... Background: Neonatal encephalopathy, following severe birth asphyxia or perinatal hypoxia is referred to as hypoxic ischemic encephalopathy (HIE). Cerebral ischemia occurs as a consequence of cerebral ...
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Perinatal Hypoxic-Ischemic Encephalopathy: epileptic and paretic outcome at one year of age
... Perinatal Hypoxic-Ischemic Encephalopathy (H.I.E.), sec- ondary to asphyxia, is one of the most important causes of acute perinatal mortality and neurological sequelae[1] which include severe disability (e.g. ...
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Neuro Developmental Outcome of New Borns with Hypoxic Ischemic Encephalopathy
... 9. Asakura H. et al, Perinatal risk factors related to neurologic outcomes of term new borns with asphyxia at birth : a prospective study. Of the 152 newborns in 1 year prospective follow up. The incidence of a poor ...
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