Results 61 to 70 of about 14,532 (228)
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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Pediatric Neurology, 1990 Although the syndrome of infantile spasms has been known for 150 years and its treatment described since 1958, controversy still surrounds the appropriate therapy for this devastating disorder. The rationale, dosage, and side effects of ACTH treatment of infantile spasms is described.
openaire +7 more sources
GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy [PDF]
, 2016 The gamma-aminobutyric acid type A receptor β3 gene (GABRB3) encodes the β3-subunit of the gamma-aminobutyric acid type A (GABAA ) receptor, which mediates inhibitory signalling within the central nervous system.
Ambegaonkar, G +7 more
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Epileptic Disorders, EarlyView.Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor +7 more
wiley +1 more source
NeuroImage: Clinical, 2017 Although infantile spasms can be caused by a variety of etiologies, the clinical features are stereotypical. The neuronal and vascular mechanisms that contribute to the emergence of infantile spasms are not well understood.
Emilie Bourel-Ponchel +4 more
doaj +1 more source
Infantile Spasms Treated with Intravenous Methypredinsolone Pulse [PDF]
, 2017 How to Cite This Article: Hassanzadeh Rad A, Aminzadeh V. Infantile Spasms Treated with Intravenous Methypredinsolone Pulse. Iran J Child Neurol. Spring 2017; 11(2):8-12.AbstractObjectiveInfantile spasms is diagnosed late even by expert pediatricians ...
AMINZADEH, vahid, HASSANZADEH RAD, Afagh
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Epileptic Disorders, EarlyView.Abstract The accurate interpretation of scalp EEG remains an instrumental diagnostic component of epilepsy care. Knowledge of what constitutes normal EEG findings, non‐epileptiform abnormalities, and epileptiform patterns—both ictal and interictal—is essential for appropriate patient management.
Juan Luis Alcala‐Zermeno +9 more
wiley +1 more source
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 Disorders, EarlyView.Abstract Patients with TUBA1A pathogenic variants may present with complex brain malformation, intellectual disability, and epilepsy. The epilepsy phenotype is varied, ranging from mild to severe, with epileptic spasms and focal seizures being the most common seizure types.
Andy Cheuk‐Him Ng +1 more
wiley +1 more source