Results 41 to 50 of about 11,674 (220)

Association of early-onset epileptic encephalopathy with involuntary movements – Case series and literature review

Epilepsy & Behavior Reports, 2021
Epileptic-dyskinetic encephalopathies are rare epilepsies characterized by early-onset epileptic encephalopathies (EOEEs) with involuntary movement. Herein, we investigated the impact of gene variants in epileptic-dyskinetic encephalopathies.
Atsuko Arisaka, Mitsuko Nakashima, Satoko Kumada, Kenji Inoue, Hiroya Nishida, Hideaki Mashimo, Hirofumi Kashii, Mitsuhiro Kato, Koichi Maruyama, Akihisa Okumura, Hirotomo Saitsu, Naomichi Matsumoto, Mitsumasa Fukuda   +12 more
doaj   +1 more source

Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long‐term follow‐up and review of the literature

JIMD Reports, 2022
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by deficiency of arylsulfatase A (ARSA). Heterozygous carriers of disease‐causing variants and individuals harbouring pseudodeficiency alleles in the ARSA gene ...
Lucia Laugwitz, Vidiyaah Santhanakumaran, Mareike Spieker, Judith Boehringer, Benjamin Bender, Volkmar Gieselmann, Stefanie Beck‐Woedl, Gernot Bruchelt, Klaus Harzer, Ingeborg Kraegeloh‐Mann, Samuel Groeschel   +10 more
doaj   +1 more source

The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders [PDF]

, 2016
INTRODUCTION: Neurotransmitters are chemical messengers that enable communication between the neurons in the synaptic cleft. Inborn errors of neurotransmitter biosynthesis, breakdown and transport are a group of very rare neurometabolic diseases ...
Cortès-Saladelafont, Elisenda, Fernández-Ramos, Joaquín A, Friedman, Jennifer, Garcia-Cazorla, Àngels, Honzik, Tomas, Horvath, Gabriella, International Working Group on Neurotransmitter related disorders (iNTD), Jeltsch, Kathrin, Jung-Klawitter, Sabine, Kurian, Manju A, Kuseyri, Oya, Lopez-Laso, Eduardo, Mastrangelo, Mario, Opladen, Thomas, Pearson, Toni, Pons, Roser, Scholl-Bürgi, Sabine, Wassenberg, Tessa   +17 more
core   +1 more source

Experiences of caregivers of children with spinal muscular atrophy participating in the expanded access program for nusinersen: a longitudinal qualitative study

Orphanet Journal of Rare Diseases, 2020
Background Expanded access programs (EAPs) allow patients with serious, life-threatening conditions access to drugs prior to their formal approval.
Petra Kiefer, Janbernd Kirschner, Astrid Pechmann, Thorsten Langer   +3 more
doaj   +1 more source

Mesial-Temporal Epileptic Ripples Correlate With Verbal Memory Impairment

Frontiers in Neurology, 2022
RationaleHigh frequency oscillations (HFO; ripples = 80–200, fast ripples 200–500 Hz) are promising epileptic biomarkers in patients with epilepsy. However, especially in temporal epilepsies differentiation of epileptic and physiological HFO activity ...
Jonas Christian Bruder, Kathrin Wagner, Daniel Lachner-Piza, Kerstin Alexandra Klotz, Andreas Schulze-Bonhage, Julia Jacobs   +5 more
doaj   +1 more source

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, O'Callaghan, FJK, Wilmshurst, JM   +2 more
core   +1 more source

Maternal AED Treatment and Neonatal Behavior

Pediatric Neurology Briefs, 1996
The relationship between antiepileptic drug (AED) treatment during pregnancy, neurobehavior of the neonate, and the neurological outcome in later life of 40 children exposed in utero to a single AED (phenobarbital, phenytoin, valproic acid) was studied ...
J Gordon Millichap
doaj   +1 more source

Early Globus Pallidus Internus Stimulation in Pediatric Patients With Generalized Primary Dystonia: Long-Term Efficacy and Safety [PDF]

, 2010
Primary generalized dystonia presents mainly at a young age and commonly is severely disabling. The authors report the long-term follow-up (mean, 73 months; range, 50-101 months) of 5 pediatric patients (mean age at surgery 13 years; range, 8-16 years ...
Berend Feddersen, Fahn S., Florian Heinen, Ingo Borggraefe, Jan Hinnerk Mehrkens, Kai Bötzel, Schaltenbrand G.   +6 more
core   +1 more source

Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy

Epilepsia, EarlyView.
Abstract Objective SCN2A loss‐of‐function (LoF) variants are associated with epilepsy (onset age ≥ 3 months), intellectual disability (ID), and autism spectrum disorder (ASD). Despite numerous identified variants and the description of phenotypic subgroups, relationships between Nav1.2 channel dysfunction and clinical phenotypes remain unclear.
Marsha Tan, Beatrice Southby Goad, Meagan Allen, Jill Rodda, Kay L. Richards, Simone L. Ardern‐Holmes, Daniel Bamborschke, Daniel Fritzen, Inna Hughes, Kate Riney, Ana Roche Martinez, Angelo Russo, Adriane Sinclair, Stefano Sartori, Marina Trivisano, Angela De Dominicis, Nicola Specchio, Rikke S. Møller, Ingrid E. Scheffer, Walid Fazeli, Markus Wolff, Steven Petrou, Katherine B. Howell, Géza Berecki   +23 more
wiley   +1 more source

Arterial spin labeling performs comparably to 2‐[18F]fluoro‐2‐deoxy‐D‐glucose positron emission tomography for presurgical evaluation in pediatric lesional epilepsy

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to test whether arterial spin labeling (ASL) performs comparably to 2‐[18F]fluoro‐2‐deoxy‐D‐glucose positron emission tomography (FDG‐PET), the mainstay functional imaging technique, in pediatric lesional epilepsy, while avoiding radiotracer exposure and additional sedation.
Antonio Giulio Gennari, Dorottya Cserpan, Raimund Kottke, Niklaus Krayenbühl, Michael Messerli, Martin W. Hüllner, Ruth O'Gorman Tuura, Georgia Ramantani   +7 more
wiley   +1 more source