Spasms, Infantile

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  Subject Areas on Research

  • A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. 
  • A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion. 
  • Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data. 
  • Brain malformation and infantile spasms in a SCAD deficiency patient. 
  • Can you predict an immediate, complete, and sustained response to the ketogenic diet? 
  • Current and Emerging Therapies of Severe Epileptic Encephalopathies. 
  • De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. 
  • De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. 
  • De novo mutations in epileptic encephalopathies. 
  • De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 
  • Efficacy of the ketogenic diet in Lennox-Gastaut syndrome: a retrospective review of one institution's experience and summary of the literature. 
  • Efficacy, tolerability, and kinetics of lamotrigine in infants. 
  • Epileptic and electroencephalographic manifestations of guanidinoacetate-methyltransferase deficiency. 
  • Epileptic spasms: a previously unreported manifestation of WDR45 gene mutation. 
  • Facilitation of infantile spasms by partial seizures. 
  • Focal features in West syndrome indicating candidacy for surgery. 
  • Glutamate decarboxylase is not genetically linked to pyridoxine-dependent seizures. 
  • Hypsarrhythmia: frequency of variant patterns and correlation with etiology and outcome. 
  • Improved Pathogenic Variant Localization via a Hierarchical Model of Sub-regional Intolerance. 
  • Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant. 
  • Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency. 
  • Infantile spasms following near-drowning: a report of two cases. 
  • Interactions between sleep and epilepsy. 
  • Introduction. 
  • Medical treatment of patients with infantile spasms. 
  • Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H. 
  • Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation. 
  • Positron emission tomography in pediatric epilepsy. 
  • Possible induction of West syndrome by oxcarbazepine therapy in a patient with complex partial seizures. 
  • Reply. 
  • Response of infantile spasms to levetiracetam. 
  • Resting-state activity in development and maintenance of normal brain function. 
  • The Expanding Clinical Spectrum of Genetic Pediatric Epileptic Encephalopathies. 
  • The association of strabismus, amblyopia, and refractive errors in spasmus nutans. 
  • Therapy of infantile spasms: new opportunities and emerging challenges. 
  • Two new familial severe infantile spasm syndromes in males. 
  • West syndrome in tuberous sclerosis complex. 
  • ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss. 
  • [Aetiological aspects of West Syndrome].