ABSTRACT Objective Autism spectrum disorder (ASD) affects 1 in 36 individuals in the United States and is characterized by impaired social communication and restrictive/repetitive behaviors. Individuals with tuberous sclerosis complex (TSC) have a high incidence of ASD (40%) and exhibit congenital brain lesions (tubers), offering a unique lesion‐based ...
Wendy Xiao Herman +10 more
wiley +1 more source
IESS-FusionNet: Physiologically Inspired EEG-EMG Fusion with Linear Recurrent Attention for Infantile Epileptic Spasms Syndrome Detection. [PDF]
Feng J +6 more
europepmc +1 more source
Correction to “Imbalance between hippocampal projection cell and parvalbumin interneuron architecture increases epileptic susceptibility in mouse model of methyl
openalex +1 more source
Exploring role of genetics in diagnosing, management, and outcome of infantile epilepsy: A case series of three interesting cases. [PDF]
Kadian J +5 more
europepmc +1 more source
Mean global field power is reduced in infantile epileptic spasms syndrome after response to vigabatrin [PDF]
ARJUN NAIR +4 more
openalex +1 more source
Advantages of Exome Sequencing Over Panel Testing for Individuals With a Seizure Indication
ABSTRACT Objective Our aim was to investigate the advantages of exome sequencing versus panel testing for patients with unexplained seizures. Methods We reviewed the diagnostic outcomes of exome sequencing by a commercial genetics laboratory for more than 16 000 individuals with a clinical history of seizures or suspected seizures.
Michelle M. Morrow +8 more
wiley +1 more source
Short-Term Outcomes and Immunologic Mechanisms of Adrenocorticotropic Hormone in Infantile Epileptic Spasm Syndrome: A Multicenter Prospective Trial in Southern China. [PDF]
Ran Y +15 more
europepmc +1 more source
Epilepsy Phenotypic Spectrum of NUS1‐Related Disorder: A Case Series
ABSTRACT Background Epilepsy with myoclonic and atonic seizures (EMAtS), also known as Doose syndrome, accounts for 1%–2% of childhood epilepsies, and various genes have been implicated in causing this epilepsy syndrome. NUS1 encodes for Nogo‐B receptor (NgBR), which stabilizes the dehydrodolichyl‐diphosphate synthase complex in the endoplasmic ...
Saumel Ahmadi +6 more
wiley +1 more source
Diagnostic Challenges and Consideration of Landau-Kleffner Syndrome as a Differential Diagnosis for Language Disorders: A Case Report. [PDF]
Tomal D +5 more
europepmc +1 more source
Nerve conduction velocity in patients under longterm treatment with antiepileptic drugs [PDF]
Berlit, Peter, Krause, Klaus-Henning
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