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.

July 1, 2020

Neonatal SCN2A encephalopathy: A peculiar recognizable electroclinical sequence

Epilepsy & Behavior : E&B
Gia MelikishviliSvetlana Gataullina
July 24, 2020
Open Access

A Novel Nonsense Gene Variant Responsible for Early Infantile Epileptic Encephalopathy Type 39: Case Report

Pakistan Journal of Biological Sciences : PJBS
Maysa SalehBushra Yacop
April 25, 2020
Case Report
Open Access

De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy

American Journal of Human Genetics
Hyung-Lok ChungBo Xiao
July 15, 2020
Open Access

The patterns of response of 11 regimens for infantile spasms

Scientific Reports
Leilei MaoJing Peng
July 17, 2020

Gel electromembrane extraction using rotating electrode: A new strategy for mass transfer enhancement of basic drugs from real human urine samples

Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
Majid BehpourSaeed Nojavan
August 1, 2020

De novo CACNA1G variants in developmental delay and early-onset epileptic encephalopathies

Journal of the Neurological Sciences
Misako KuniiFumiaki Tanaka
July 23, 2020

Comparison of three electromembrane-based extraction systems for NSAIDs analysis in human urine samples

Analytical and Bioanalytical Chemistry
Noemí Aranda-MerinoRut Fernández-Torres
May 31, 2020

Comparison of core features in four Developmental Encephalopathies in the Rett Natural History Study

Annals of Neurology
Clare Cutri-FrenchRett and Rett related disorders natural history study
July 21, 2020

Phenotypic spectrum of patients with GABRB2 variants: from mild febrile seizures to severe epileptic encephalopathy

Developmental Medicine and Child Neurology
Ying YangYuehua Zhang
May 1, 2020
Open Access

RNAi-Based Gene Therapy Rescues Developmental and Epileptic Encephalopathy in a Genetic Mouse Model

Molecular Therapy : the Journal of the American Society of Gene Therapy
Osasumwen V AimiuwuWayne N Frankel
June 12, 2020

Clinical and genetic characteristics of children with STXBP1 encephalopathy

Zhonghua er ke za zhi. Chinese journal of pediatrics
J J CaoQ Chen
November 16, 2020

A novel NAPB splicing mutation identified by Trio-based exome sequencing is associated with early-onset epileptic encephalopathy

European Journal of Medical Genetics
Xuechao ZhaoXiangdong Kong
November 29, 2020

Three different scenarios for epileptic spasms

Epilepsy & Behavior : E&B
Lucia FuscoMarta Elena Santarone
September 13, 2020

Clinical characteristics of KCNQ2 encephalopathy

Brain & Development
Hyo Jeong KimHoon-Chul Kang
October 2, 2020

The phenotype and treatment of SCN2A-related developmental and epileptic encephalopathy

Epileptic Disorders : International Epilepsy Journal with Videotape
Hyo Jeong KimHoon-Chul Kang
November 22, 2020

CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype

European Journal of Medical Genetics
Aurora CurròAnna Maria Pinto

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