Results 21 to 30 of about 11,674 (220)
DNM1 encephalopathy: A new disease of vesicle fission. [PDF]
, 2017 ObjectiveTo evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling ...
Campbell, Colleen A +38 more
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Historic review: a short history of neuropediatrics in Germany between 1850 and 1950
Neurological Research and Practice, 2020 Since the middle of the nineteenth century, there has been increasing knowledge about the diagnosis and therapy of diseases of the central and peripheral nervous system and muscle in children.
Hans Michael Strassburg
doaj +1 more source
Scalp HFO rates are higher for larger lesions
Epilepsia Open, 2022 High‐frequency oscillations (HFO) in scalp EEG are a new and promising noninvasive epilepsy biomarker, providing added prognostic value, particularly in pediatric lesional epilepsy. However, it is unclear if lesion characteristics, such as lesion volume,
Dorottya Cserpan +6 more
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, 2016 PURPOSE: The purpose of this study was to describe a series of patients with ictal crying to estimate its occurrence and characterize the clinical features and the underlying etiology.
Asadi-Pooya, Ali Akbar +2 more
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Constipations in children: the neurologist’s opinion
Лечащий Врач, 2021 The problem of constipation, known to be regularly encountered in neuropediatrics is covered in the lecture. Contemporary principles of approach to its diagnostics and management in pediatric patients are considered.
V. M. Studenikin
doaj
Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis. [PDF]
, 2012 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a devastating autosomal recessive disorder due to mutations in TYMP, which cause loss of function of thymidine phosphorylase (TP), nucleoside accumulation in plasma and tissues and ...
Bax, BE +9 more
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Etiology of Attention Deficit Disorders
Pediatric Neurology Briefs, 1991 Familial-genetic factors in the etiology of attention deficit disorder (ADDH) were studied in 145 children who met the DSM-III criteria at the Neuropediatrics Unit, Shaare Zedek Medical Center, Jerusalem, Israel.
J Gordon Millichap
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A developmental and genetic classification for malformations of cortical development: update 2012. [PDF]
, 2012 Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain
Barkovich, A James +4 more
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Genetics of Benign Rolandic Epilepsy
Pediatric Neurology Briefs, 1999 Twenty-two nuclear families with benign epilepsy of childhood with centrotemporal spikes (BECTS, rolandic epilepsy) were analyzed by DNA linkage studies at the Department of Neuropediatrics, University of Kiel, Germany.
J Gordon Millichap
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Frontiers in Neurology, 2021 Introduction: High frequency oscillations (HFO) are promising biomarkers of epileptic tissue. While group analysis suggested a correlation between surgical removal of HFO generating tissue and seizure free outcome, HFO could not predict seizure outcome ...
Jonas C. Bruder +6 more
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