Early Myoclonic Encephalopathy

Early myoclonic encephalopathy is an epileptic syndrome typically diagnosed by three months of age. It is characterized by frequent seizures and severe early encephalopathy and has a severely reduced life expectancy. Causes can include metabolic abnormalities or genetic mutations. Find the latest research on early myoclonic encephalopathy here.

January 13, 2022

Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.

European Journal of Human Genetics : EJHG
Julian SchröterSteffen Syrbe
January 4, 2022

Phenotypic and genetic spectrum in Chinese children with SCN8A-related disorders.

Seizure : the Journal of the British Epilepsy Association
Chunhui HuYi Wang
December 11, 2021

Predictors of outcome among 31 children with infantile spasms syndrome.

Epileptic Disorders : International Epilepsy Journal with Videotape
Ana KvernadzeSofia Tatishvili
December 4, 2021

Phenotypic spectrum and long-term outcome of children with genetic early-infantile-onset developmental and epileptic encephalopathy.

Epileptic Disorders : International Epilepsy Journal with Videotape
Chunhui HuZhisheng Liu
November 17, 2021

Different phenotypes of neurological diseases, including alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism, caused by de novo ATP1A3 mutation in a family.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Wen WeiYun-Fei Li
October 31, 2021

Infantile-onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype.

Epilepsia Open
Guillem de Valles-IbáñezLynette G Sadleir
October 27, 2021

GABRB3-related epilepsy: novel variants, clinical features and therapeutic implications.

Journal of Neurology
Ying YangYuehua Zhang
October 23, 2021
Review
Open Access

Molecular Mechanisms of the SLC13A5 Gene Transcription.

Metabolites
Zhihui Li, Hongbing Wang
October 24, 2021
Review
Open Access

Neonatal Seizures: An Overview of Genetic Causes and Treatment Options.

Brain Sciences
Giulia SpotoGabriella Di Rosa
October 14, 2021

[Genotypes and clinical features of neonatal-onset genetic epilepsy in 141 patients].

Zhonghua er ke za zhi. Chinese journal of pediatrics
J Y ChenY H Zhang
October 6, 2021
Case Report

A homozygous GRIN1 null variant causes a more severe phenotype of early infantile epileptic encephalopathy.

American Journal of Medical Genetics. Part a
Alexander J M BlakesHelen Basu
September 16, 2021

The Spread of Spectrin in Ataxia and Neurodegenerative Disease.

Journal of Experimental Neurology
Jon S Morrow, Michael C Stankewich
August 27, 2021

Expanded phenotype of AARS1-related white matter disease.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Guy HelmanRalf A Husain
August 19, 2021
Review

[Early infantile epileptic encephalopathy caused by PACS2 gene variation: three cases report and literature review].

Zhonghua er ke za zhi. Chinese journal of pediatrics
M J WuD Sun
August 13, 2021
Preprint
Open Access

A Gene Replacement Humanization Platform for Rapid Functional Testing of Clinical Variants in Epilepsy-associated STXBP1.

BioRxiv : the Preprint Server for Biology
K. McCormickChristopher E Hopkins
August 6, 2021
Review
Open Access

Epilepsy Syndromes in the First Year of Life and Usefulness of Genetic Testing for Precision Therapy.

Genes
Allan BayatRikke S Møller

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