Results 131 to 140 of about 62,047 (246)

Clinical and Genetic Characteristics of <i>KCNT1</i>-Related Epilepsy in Infancy. [PDF]

J Epilepsy Res
K F, Ku A, St A, Bc P, S A, Ka I, J F.
europepmc   +1 more source

Familial hemiplegic migraine, epilepsy, and a suspicion of intracranial hypertension in a patient with a positive family history

Archives of Medical Science
Olga Grodzka, Piotr Chądzyński, Anna Makulec, Izabela Domitrz   +3 more
openaire   +2 more sources

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

Genetic testing for familial epilepsies: Diagnostic yield and genetic findings. [PDF]

Epilepsia
Ellis CA, Copeland J, Velez I, Oliver KL, Shalaby H, Baldwin A, Armstrong C, Back A, Berlin B, Cohen S, Cuddapah VA, deCampo D, Dubbs H, Ginn N, Harrison AG, Lewin N, Lusk L, Marsh ED, Massey SL, McDonnell PP, McKee JL, Ortiz-Gonzalez X, Prentice AJ, Sullivan KR, Ruggiero SM, Fitzgerald MP, Goldberg EM, Helbig I.   +27 more
europepmc   +1 more source

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

Clinical features of dentatorubral-pallidoluysian atrophy: A survey of Chinese patients. [PDF]

J Int Med Res
Zheng N, Li M, Wang YX, Yao GE.
europepmc   +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

Relationships between pre-, post-, and inter-ictal psychiatric symptoms in patients with epilepsy. [PDF]

PCN Rep
Yasumoto S, Motooka H, Ito Y, Mashimoto M, Murotani K, Ogata R, Ozone M.   +6 more
europepmc   +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