Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy
, 2015 Infantile spasms (IS) and Lennox–Gastaut syndrome (LGS) are epileptic encephalopathies characterized by early onset, intractable seizures, and poor developmental outcomes.
Epilepsy Phenome/Genome Project & Epi4K Consortium
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Mutation in
, 2021 Andrey V. Marakhonov +10 more
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Patient-derived iPSCs show premature neural differentiation and neuron type-specific phenotypes relevant to neurodevelopment. [PDF]
, 2018 Ras/MAPK pathway signaling is a major participant in neurodevelopment, and evidence suggests that BRAF, a key Ras signal mediator, influences human behavior.
Camacho, FM +10 more
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Markedly Elevated Nitrate/Nitrite Levels in the Cerebrospinal Fluid of Children with Progressive Encephalopathy with Edema, Hypsarrhythmia, and Optic Atrophy (PEHO Syndrome) [PDF]
, 2000 Sampsa Vanhatalo, Raili Riikonen
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Hypsarrhythmia and spasms resolution after Valproic acid discontinuation in an infantile spasm patient [PDF]
, 2019 Mohammed S. Alsallumi
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Functional network and spectral analysis of clinical EEG data to identify quantitative biomarkers and classify brain disorders [PDF]
, 2016 Many cognitive and neurological disorders today, such as Autism Spectrum Disorders (ASD) and various forms of epilepsy such as infantile spasms (IS), manifest as changes in voltage activity recorded in scalp electroencephalograms (EEG).
Matlis, Sean Eben Hill
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Treatment of infantile spasms: the ideal and the mundane. [PDF]
, 2003 Baram, Tallie Z
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