Results 201 to 210 of about 2,747,199 (303)

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity

Epilepsia Open, EarlyView.
Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Mohammad Reza Seyedtaghia, Jina Babanzadeh, Marcello Scala, Lorenzo Perilli, Pasquale Striano   +4 more
wiley   +1 more source

A TLR8 Variant Identified From Whole Exome Sequencing as a Sepsis-Prone Mutation. [PDF]

FASEB Bioadv
Alhamdan F, Gianoli S, Han X, Koutsogiannaki S.   +3 more
europepmc   +1 more source

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

Epilepsia Open, EarlyView.
Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi, Umberto Costantino, Maria Teresa Di Claudio, Carmela Pia Ferro, Pietro Palumbo, Mario Benvenuto, Massimiliano Copetti, Leonardo D'Agruma, Massimo Carella, Marco Castori, Orazio Palumbo   +10 more
wiley   +1 more source

Whole Exome Sequencing Identified a Novel Mutation in the LOXHD1 Gene in Consanguineous Iranian Families With Hearing Loss. [PDF]

J Clin Lab Anal
Katiraei SHF, Gholami M, Soosanabadi M, Entezam M, Dastgheib SA.   +4 more
europepmc   +1 more source

Response to anti‐seizure medications in children carrying novel or previously reported HCN1 gene variants

Epilepsia Open, EarlyView.
Abstract Objective Variants in the HCN1 gene cause a syndrome of childhood epilepsy and developmental disability with a broad phenotypic range. Many affected children manifest with early infantile epileptic encephalopathy (EIEE) and highly drug‐resistant epilepsy.
Marium N. Khan, Nicholas P. Poolos
wiley   +1 more source

Whole-Exome Sequencing in Undiagnosed Muscular Dystrophies: A High Diagnostic Yield and Novel Insights From Iranian Families. [PDF]

Hum Mutat
Soltani N, Shahbazi Z, Fallah MS, Karimipoor M, Bagherian H, Dabbagh Bagheri S, Shirzadeh T, Zafarghandi Motlagh F, Rabie Salehi G, Younesikhah S, Asnavandi S, Zeinali R, Majidi Z, Zeinali S.   +13 more
europepmc   +1 more source

Long‐term developmental outcome in infantile epileptic spasms syndrome after high‐dose prednisolone and vigabatrin treatment

Epilepsia Open, EarlyView.
Abstract Objective To evaluate long‐term developmental outcomes and identify independent predictors of favorable developmental outcomes at 3 years of age in children with infantile epileptic spasms syndrome (IESS) treated with a standardized stepwise vigabatrin and high‐dose prednisolone protocol.
Soyoung Jang, Hui Jin Shin, Se Hee Kim, Joon Soo Lee, Ara Ko, Hoon‐Chul Kang   +5 more
wiley   +1 more source

Clinical and genetic spectrum of dual rare genetic diseases revealed by whole-exome sequencing in 14 pediatric patients. [PDF]

Orphanet J Rare Dis
Zhao M, Li F, Lu X, Zheng H, Du X.
europepmc   +1 more source

From first seizure to specific antiseizure medication in Dravet syndrome: Quantifying delays in the DS'coverED study

Epilepsia Open, EarlyView.
Abstract Objective Dravet syndrome (DS) is a rare early‐onset developmental and epileptic encephalopathy with persistent delays between seizure onset and diagnosis. The DS'coverED study aimed to characterize current diagnostic timelines by examining each step and its duration, identifying residual barriers, and actionable solutions to optimize the ...
Loucas Christodoulou, Maria Ballarà Petitbò, Sergio Aguilera Albesa, Simona Borroni, Perrine Hugon, Ratna Kumar, Tullio Messana, Pierre Meyer, Frédéric Villéga, Kerstin A. Klotz   +9 more
wiley   +1 more source

Genomic Characterization of Epigenetic Regulator Gene Alterations in Juvenile Myelomonocytic Leukemia Through Whole-Exome Sequencing. [PDF]

Epigenomes
Goel H, Majhi RK, Meena JP, Chopra A, Bakhshi S, Singh L, Seth R, Tanwar P, Gupta AK.   +8 more
europepmc   +1 more source