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Ohtahara syndrome
Childhood Epilepsy: an Update on Diagnosis and Management
Causes of Mortality in Early Infantile Epileptic Encephalopathy: a Systematic Review
Neonatal Seizures Revisited
(12) Patent Application Publication (10) Pub. No.: US 2010/0210567 A1 Bevec (43) Pub
Pediatric Disorders
Genetic and Phenotypic Heterogeneity Suggest Therapeutic Implications in SCN2A-Related Disorders
Childhood Neurological Conditions and Disorders
PAEDIATRIC PROTOCOLS for Malaysian Hospitals 3Rd Edition
KCNT1 Epilepsy with Migrating Focal Seizures Shows a Temporal
Genes of Early-Onset Epileptic Encephalopathies: from Genotype to Phenotype
Treatment of Epileptic Encephalopathies
KCNQ2 Gene Potassium Voltage-Gated Channel Subfamily Q Member 2
Is There a Mendelian Transmission Ratio Distortion of the C.429 452Dup(24Bp) Polyalanine Tract ARX Mutation?
Utviklingsavvik V02
REPORT a Longer Polyalanine Expansion Mutation in the ARX Gene Causes Early Infantile Epileptic Encephalopathy with Suppression- Burst Pattern (Ohtahara Syndrome)
Epileptology Epileptology the Modern State of Science Epileptology the Modern State of Science
Investigating Developmental and Epileptic Encephalopathy Using Drosophila Melanogaster
EEG Monitoring of the Epileptic Newborn
Top View
Malattie Rare Ciclo
Disorders of STXBP1?
Epilepsy Syndromes in the First Year of Life and Usefulness of Genetic Testing for Precision Therapy
Genetics Update: Monogenetics, Polygene Disorders and the Quest for Modifying Genes
10P13 DELETION
(12) Patent Application Publication (10) Pub. No.: US 2009/0178153 A1 Gaitanaris Et Al
Volume 27 / Number 1 / March 2019 Volume 27 / Number 1 March 2019 Pages 1-31
The Role of Aristaless Related Homeobox (ARX) Gene Mutations in Intellectual Disability
Two Distinct De Novo Pathogenic Sequence Variants in the SCN2A
Genome-Wide Association Studies in the Partial Epilepsies CLÁUDIA José Franco Bacanh
Novel 9Q34.11 Gene Deletions Encompassing Combinations of Four Mendelian Disease Genes: STXBP1, SPTAN1, ENG, and TOR1A
An Update on the Neurological Short Tandem Repeat Expansion Disorders and the Emergence of Long-Read Sequencing Diagnostics
Blueprint Genetics Epileptic Encephalopathy Panel
CHUANG-DISSERTATION-2019.Pdf
Supplemental Materials
EIEE Information Sheet 6-10-19
Epileptic Encephalopathies in Childhood: the Role of Genetic Testing
Treatment of Epileptic Encephalopathies
Systematic Analysis of Dark and Camouflaged Genes: Disease-Relevant Genes Hiding in Plain 2 Sight 3 4 Mark T
Type 1 Established Condition List
Proteus Syndrome Associated with Hemimegalencephaly and Ohtahara Syndrome: Report of Two Cases
Ohtahara Syndrome Associated with H-Type Tracheoesophageal Fistula
Ohtahara Syndrome in a Family with an ARX Protein Truncation Mutation (C.81C4G/P.Y27X)
Review Article Diagnosis and Management of Epileptic Encephalopathies in Children
Benign and Severe Early-Life Seizures: a Round in the First Year of Life
Epileptic Seizures and Non Epileptic Events in Children
Subject Index
Survey of Ten Cases of Early Infantile Epileptic Encephalopathy (Ohtahara Syndrome)
PGT-M Disease List
Established Conditions List
The Ohtahara Syndrome
PGT-M Disease List
Medizinisch Genetisches Zentrum
Early Infantile Epileptic Encephalopathy