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.
- 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 epileptic encephalopathies.
- De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.
- Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.
- 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.
- Response of infantile spasms to levetiracetam.
- Resting-state activity in development and maintenance of normal brain function.
- Risk for infantile spasms after acute symptomatic neonatal seizures.
- The Expanding Clinical Spectrum of Genetic Pediatric Epileptic Encephalopathies.
- The association of strabismus, amblyopia, and refractive errors in spasmus nutans.
- Therapy of Lennox-Gastaut syndrome.
- Therapy of infantile spasms: new opportunities and emerging challenges.
- Two new familial severe infantile spasm syndromes in males.
- West syndrome in tuberous sclerosis complex.
- [Aetiological aspects of West Syndrome].