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   Articles with "myoclonic epilepsy" as a keyword



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Abnormal gait and motor cortical processing in drug‐resistant juvenile myoclonic epilepsy

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recommendations! Published in 2023 at "Brain and Behavior"

DOI: 10.1002/brb3.2872

Abstract: Juvenile myoclonic epilepsy (JME) is characterized by generalized seizures. Nearly 30% of JME patients are drug‐resistant (DR‐JME), indicating a widespread cortical dysfunction. Walking is an important function that necessitates orchestrated coordination of frontocentral cortical regions.… read more here.

Keywords: juvenile myoclonic; myoclonic epilepsy; gait motor; drug resistant ... See more keywords
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EFHC1 mutation in Indian juvenile myoclonic epilepsy patient

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recommendations! Published in 2017 at "Epilepsia Open"

DOI: 10.1002/epi4.12037

Abstract: Juvenile myoclonic epilepsy (JME) is the most common form of idiopathic generalized epilepsies (IGEs) and is genetically heterogeneous. Mutations in EFHC1 cause JME. Because about 2 million people in India are affected by JME alone,… read more here.

Keywords: jme; myoclonic epilepsy; efhc1 mutation; juvenile myoclonic ... See more keywords
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Identification of variants in the mitochondrial lysine‐tRNA (MT‐TK) gene in myoclonic epilepsy—pathogenicity evaluation and structural characterization by in silico approach

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recommendations! Published in 2018 at "Journal of Cellular Biochemistry"

DOI: 10.1002/jcb.26857

Abstract: Variations in mitochondrial genes have an established link with myoclonic epilepsy. In the present study we evaluated the nucleotide sequence of MT‐TK gene of 52 individuals from 12 unrelated families and reported three variations in… read more here.

Keywords: silico; myoclonic epilepsy; pathogenicity; trna ... See more keywords
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TRIT1 defect leads to a recognizable phenotype of myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and normal lactate levels

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recommendations! Published in 2022 at "Journal of Inherited Metabolic Disease"

DOI: 10.1002/jimd.12550

Abstract: TRIT1 defect is a rare, autosomal‐recessive disorder of transcription, initially described as a condition with developmental delay, myoclonic seizures, and abnormal mitochondrial function. Currently, only 13 patients have been reported. We reviewed the genetic, clinical,… read more here.

Keywords: delay strabismus; epilepsy speech; myoclonic epilepsy; speech delay ... See more keywords
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Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome

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recommendations! Published in 2020 at "Neurological Sciences"

DOI: 10.1007/s10072-020-04780-0

Abstract: We have read the report of congenital generalized lipodystrophy (CGL) type 2 by Ferranti et al. [1] with interest. The authors report the case of two sisters with progressive myoclonic epilepsy (PME) associated to type… read more here.

Keywords: progressive myoclonic; myoclonic epilepsy; seip syndrome; berardinelli seip ... See more keywords

F14. Febrile myoclonus on EEG; benign or epileptic?

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recommendations! Published in 2018 at "Clinical Neurophysiology"

DOI: 10.1016/j.clinph.2018.04.177

Abstract: Introduction Febrile myoclonus is an infrequently seen entity in young children. It is thought to be different from febrile seizures and early childhood myoclonic epilepsy. These are reported to not carry an increased risk for… read more here.

Keywords: myoclonic epilepsy; febrile myoclonus; febrile; eeg ... See more keywords

P11-S Co-existence of Juvenile Myoclonic Epilepsy and Neurofibromatosis and the lessons learned from one case report

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recommendations! Published in 2019 at "Clinical Neurophysiology"

DOI: 10.1016/j.clinph.2019.04.551

Abstract: Background Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder, afflicting 1 in 2500–3000 individuals. These patients harbor cafe-au-lait macules, axillary and inguinal freckling, neurofibromas and optic pathway gliomas. Epilepsy, although not usual, is… read more here.

Keywords: epilepsy; juvenile myoclonic; case; myoclonic epilepsy ... See more keywords
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TBC1D24-related familial infantile multifocal myoclonus: Description of a new Chinese pedigree with a 20 year follow up

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recommendations! Published in 2022 at "Epilepsy Research"

DOI: 10.1016/j.eplepsyres.2022.106923

Abstract: INTRODUCTION Disorders associated with mutations in the Tre2/Bub2/Cdc16 (TBC)1 domain family member 24 gene (TBC1D24) present a wide range of phenotypes, ranging from mild to fatal seizure diseases, non-syndromic deafness, and complex syndromes such as… read more here.

Keywords: tbc1d24 related; myoclonic epilepsy; familial infantile; homozygous tbc1d24 ... See more keywords
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Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID

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recommendations! Published in 2017 at "European Journal of Human Genetics"

DOI: 10.1038/ejhg.2017.52

Abstract: For a large number of individuals with intellectual disability (ID), the molecular basis of the disorder is still unknown. However, whole-exome sequencing (WES) is providing more and more insights into the genetic landscape of ID.… read more here.

Keywords: epilepsy; two families; myoclonic epilepsy; cplx1 two ... See more keywords
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Medical management of a child with congenital generalized lipodystrophy accompanied with progressive myoclonic epilepsy

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recommendations! Published in 2019 at "Medicine"

DOI: 10.1097/md.0000000000018121

Abstract: Abstract Rationale: Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive hereditary disease. It is associated with metabolic complications and epilepsy is rare. Patient Concerns and Diagnoses: One child with BSCL2 mutation and CGL accompanied… read more here.

Keywords: progressive myoclonic; generalized lipodystrophy; child; epilepsy ... See more keywords
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Psychomotor development and seizure features in idiopathic myoclonic epilepsy in infancy

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recommendations! Published in 2022 at "Medicine"

DOI: 10.1097/md.0000000000030512

Abstract: Myoclonic epilepsy in infancy (MEI) is a rare syndrome characterized by generalized myoclonic seizures (MS) that occur within the first 3 years of life. In the present study, the form of onset, and clinical and… read more here.

Keywords: mei; psychomotor development; myoclonic epilepsy; epilepsy infancy ... See more keywords