Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype. [PDF]
Am J Med Genet C Semin Med Genet, 2022 AbstractGene variants that dysregulate signaling through the RAS‐MAPK pathway cause cardiofaciocutaneous syndrome (CFCS), a rare multi‐system disorder. Infantile epileptic spasms syndrome (IESS) and other forms of epilepsy are among the most serious complications.
Kenney-Jung DL +14 more
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Clinical profile of vigabatrin as monotherapy for treatment of infantile spasms [PDF]
, 2010 Jason T Lerner1, Noriko Salamon2, Raman Sankar1,31Departments of Pediatrics, 2Radiological Sciences, 3Neurology, David Geffen School of Medicine, University of California Los Angeles and Mattel Children’s Hospital at UCLA, Los Angeles, CA ...
Jason T Lerner +2 more
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Treatment of Symptomatic Infantile Spasms
Pediatric Neurology Briefs, 2013 Investigators at Tokyo Women's Medical University studied the clinical, radiological, and EEG characteristics of 69 patients with infantile spasms (IS) followed for 3-74 months (mean 18 months) after initial cessation of epileptic spasms (ES).
J Gordon Millichap
doaj +1 more source
Genetics update: monogenetics, polygene disorders and the quest for modifying genes [PDF]
, 2018 The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships.
Symonds, Joseph D., Zuberi, Sameer M.
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Epileptic spasms - 175 years on: Trying to teach an old dog new tricks [PDF]
, 2017 PURPOSE: This text provides an overview of how the condition "infantile spasms" has evolved in the last 175 years. METHOD: Key references are summarised to assimilate this review.
Ibekwe, RC +2 more
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High-Dose Phenobarbital for Ohtahara Syndrome
Pediatric Neurology Briefs, 2002 Oral high-dose phenobarbital therapy was effective in the control of tonic spasms in a 1 month-old-infant with early infantile epileptic encephalopathy with suppression bursts (Ohtahara syndrome) treated at Tokyo Metropolitan Hachioji Children’s Hospital,
J Gordon Millichap
doaj +1 more source
PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation? [PDF]
, 2019 BACKGROUND: Mutations in Proline-rich Transmembrane Protein 2 (PRRT2) have been primarily associated with individuals presenting with infantile epilepsy, including benign familial infantile epilepsy, benign infantile epilepsy, and benign myoclonus of ...
Cho SY +8 more
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Epilepsy, Behavioral Abnormalities, and Physiological Comorbidities in Syntaxin-Binding Protein 1 (STXBP1) Mutant Zebrafish. [PDF]
, 2016 Mutations in the synaptic machinery gene syntaxin-binding protein 1, STXBP1 (also known as MUNC18-1), are linked to childhood epilepsies and other neurodevelopmental disorders.
Baraban, Scott C +8 more
core +6 more sources
Current understanding and neurobiology of epileptic encephalopathies
Neurobiology of Disease, 2016 Epileptic encephalopathies are a group of diseases in which epileptic activity itself contributes to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone.
Stéphane Auvin +2 more
doaj +1 more source
Infantile spams without hypsarrhythmia: A study of 16 cases [PDF]
, 2010 In this study, we present the electroclinical features and evolution of patients with epileptic spasms (ES) in clusters without hypsarrhythmia and with or without focal or generalized paroxysmal discharges on the interictal EEG.
Caraballo, Roberto Horacio +7 more
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