Results 121 to 130 of about 6,465 (257)

Expanding the electroclinical spectrum of TANC2‐related disorders: Lennox–Gastaut syndrome and related developmental epileptic phenotypes

Epilepsia Open, EarlyView.
Abstract Objective Neurodevelopmental disorders (NDDs) and epilepsy are often associated. Increasing evidence highlights a pivotal role for pathogenic variants in genes encoding synaptic scaffolding proteins. Within this group, TANC2 has recently been implicated in intellectual developmental disorder with autistic features and language delay, with or ...
Lorenzo Perilli, Carlotta Stipa, Gianmichele Villano, Laura Licchetta, Leo Strothmann, Robin Tobias Jauss, Gerhard Josef Kluger, Raffaella Minardi, NETRE consortium, Giuseppe Gobbi, Salvatore Grosso, Francesca Bisulli, Pasquale Striano   +12 more
wiley   +1 more source

Juvenile myoclonic epilepsy as a spectrum disorder: mechanisms of drug resistance and precision management. [PDF]

Front Neurol
Liu X, Sun M, Du X.
europepmc   +1 more source

Complete lesion resection and early surgical intervention are favorable factors for long‐term seizure freedom in drug‐resistant epileptic spasms

Epilepsia Open, EarlyView.
Abstract Objective Epileptic spasms (ES) in children carry a high risk of neurodevelopmental delay, yet predictors of long‐term surgical outcome remain incompletely defined. This study aimed to evaluate seizure outcomes following epilepsy surgery and to identify independent prognostic factors for postoperative recurrence.
Hua Li, Yao Wang, Qiang Guo, Junxi Chen, Kaihui Li, Danfang Li, Qinghua Tan, Jing Guo   +7 more
wiley   +1 more source

Familial SCN1A-Related Epilepsy in Palestinian Siblings: Challenges of Genetic Testing in Resource-Limited Settings: A Case Report. [PDF]

Clin Case Rep
Abu Hetta A, Razem RS, Shahateet S, Pujee BK, Shawabka AM, AbuIrayyeh BM.   +5 more
europepmc   +1 more source

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

Drug-Resistant Early-Onset Progressive Myoclonic Epilepsy Revealing Lafora Disease: A Case Report. [PDF]

Cureus
Pejanovic-Skobic N, Demirovic S, Boban Raguz A, Bender M, Batinic D, Pravdic N.   +5 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

Epilepsy disease classification: a community effort to enhance the Mondo Disease Ontology. [PDF]

Database (Oxford)
Vasilevsky N, Gehrke S, Mullen K, Barua S, Braun I, Brünger T, Coughlin C, Ivaniuk A, Korn D, Lal D, Marsh S, O'Loughlin E, Olson D, Shwetar Y, Sofocleous C, Vogel-Farley V, Grabenstatter H, Haendel M, Mungall C, Toro S.   +19 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

Epilepsy Phenotypic Spectrum of NUS1-Related Disorder: A Case Series. [PDF]

Ann Child Neurol Soc
Ahmadi S, Fulton N, Morrissey M, Landre R, Tomko S, Urano F, Guerriero RM.   +6 more
europepmc   +1 more source