Results 141 to 150 of about 2,936,182 (239)

Refining the electroclinical phenotype of 15q11.2 microdeletion: EEG biomarker overlap with Angelman syndrome

Epileptic Disorders, EarlyView.
Abstract The 15q11.2 microdeletion is a chromosomal condition associated with a broad epileptic phenotype. It is differentiated from Angelman syndrome, which is typically a larger maternal deletion in an overlapping area. We describe a patient with a 15q11.2 microdeletion that has clinical and EEG biomarker features similar to those seen in Angelman ...
Hok Leong Chin, Joshua Chang, Douglas Nordli III   +2 more
wiley   +1 more source

Long-term follow-up of genetic generalized epilepsy with typical absence seizures and generalized paroxysmal fast activity in adulthood

, 2014
İstanbul Bilim Üniversitesi, Tıp Fakültesi.Introduction: Generalized paroxysmal fast activity (GPFA), a rhythmic EEG pattern of unknown significance was reported in a few patients with genetic generalized epilepsy (GGE) presenting with typical absence ...
Gürses, R. Candan, Baykan, B., Matur, Zeliha, Bebek, Nerses, Özemir, Z. Aydın, Gokyigit, A.   +5 more
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Efficacy of fenfluramine in a pediatric epilepsy patient with a pathogenic SV2A variant: A case report

Epileptic Disorders, EarlyView.
Abstract Pathogenic SV2A gene variants have been reported as causes of epilepsy and are often associated with drug resistance and susceptibility to fever‐related seizures. No highly effective treatments have been established for this condition. We report a female patient with a family history of epilepsy who developed generalized seizures associated ...
Takayuki Mori, Hiroshi Terashima, Yu kakimoto, Mitsuhiro Kato, Shumpei Uchino   +4 more
wiley   +1 more source

“Idiopathic” and “Genetic” Generalized Epilepsies Intersect [PDF]

Epilepsy Currents, 2014
Gregory, Krauss, Kristin, Barañano
openaire   +2 more sources

Serum methylmalonic acid levels and epilepsy prevalence: Association analysis, exploratory mediation, and clinical corroboration

Epileptic Disorders, EarlyView.
Abstract Objective This study aimed to investigate the association between methylmalonic acid (MMA) and epilepsy prevalence and to explore potential inflammatory and nutritional pathways underlying this association. Methods This study included adults aged ≥ 20 years from the National Health and Nutrition Examination Survey (NHANES) 2011–2014.
Ningyu Wei, Ning Huang, Haipeng Chen, Rui Tang, Yuan Cheng, Xiang Zhang   +5 more
wiley   +1 more source

Genetic testing among patients evaluated for epilepsy surgery

Epileptic Disorders, EarlyView.
Abstract Objective Genetic testing performed to identify the underlying etiology of epilepsy has become increasingly common and is now being recommended as part of the presurgical evaluation for epilepsy surgery. This study aimed to characterize the types of genetic tests performed in patients evaluated for epilepsy surgery and assess how genetic ...
Anni Saarela, Veera‐Julia Kuronen, Oskari Timonen, Leena Jutila, Katri Silvennoinen, Annemari Kilpeläinen, Jarkko Kirjavainen, Reetta Kälviäinen   +7 more
wiley   +1 more source

Seizure detection devices in outpatient epilepsy care: High demand, low use, and the need for specialized counseling

Epileptic Disorders, EarlyView.
Abstract Objective To determine real‐world uptake of seizure detection devices (SDDs), quantify patient demand, and identify factors associated with their adoption in routine outpatient epilepsy care. Methods A monocentric cross‐sectional questionnaire‐based study was performed in outpatients at a tertiary epilepsy center.
Anthony Borho, Arthur Jordan, Tim Schrage, Miklas Mahlke, Susanna Moskau‐Hartmann, Rainer Surges, Marcel Bausch, Randi von Wrede   +7 more
wiley   +1 more source

Occipital irregular delta activity in focal epilepsy

Epileptic Disorders, EarlyView.
Abstract Objective Nonspecific occipital irregular delta activity (OID) is a common finding in focal epilepsy (FE). However, the significance of OID and its relationship to the underlying etiology of FE remain largely unstudied. This study aimed to investigate the relationship between OID and the etiology of FE, as well as the relationship between OID ...
Mónika Bessenyei, Miklós Emri, Johanna Dömötör, Béla Clemens   +3 more
wiley   +1 more source

Reflex seizures and epilepsy surgery: A network approach case‐based exploration

Epileptic Disorders, EarlyView.
Abstract Context Reflex seizures (RS) are defined by their consistent provocation by specific stimuli, encompassing a broad range from elementary sensory inputs to complex cognitive tasks. While RS are often encountered in clinical practice, their surgical management remains sparsely reported and poorly systematized.
Olivier Aron, Laure Salmon, Nicolas Nguyen, Dènahin Toffa, Sami Obaid, Alexis Robin, Dang Khoa Nguyen   +6 more
wiley   +1 more source

Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy

, 2015
The chromosome 15q13.3 region has been implicated in epilepsy, intellectual disability and neuropsychiatric disorders, especially schizophrenia. Deficiency of the acetylcholine receptor gene CHRNA7 and the partial duplication, CHRFAM7A, may contribute to
Todor Arsov (6811387), Benjamin W Darbro (13602028), Michael S Hildebrand (10688811), Susannah T Bellows (15888839), Ingrid E Scheffer (10577391), Heather C Mefford (13602025), Heather Major (13602022), Hans-Henrik M Dahl (13602013), Kate M Lawrence (13602016), John A Damiano (10688784), Saul A Mullen (13602007), Samuel F Berkovic (10577323), Leanne Dibbens (13602019)   +12 more
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