Results 31 to 40 of about 5,863 (207)

CHD2 variants are a risk factor for photosensitivity in epilepsy. [PDF]

, 2015
Photosensitivity is a heritable abnormal cortical response to flickering light, manifesting as particular electroencephalographic changes, with or without seizures. Photosensitivity is prominent in a very rare epileptic encephalopathy due to de novo CHD2
Cantonetti, L., Muhle, H., Thiele, H., Lench, N, Krishna Chinthapalli, V, Krause, R, Sadleir, L. G., Gaudio, L.D., Moller, R. S., EURO Epinomics CoGIE Consortium, Afrikanova, T, Jocic-Jakubi, B., Capovilla, G., Myers, C., Myers, C. T., Sadleir, LG, Muhle, H, Nürnberg, P, Helbig, I., Parisi, P., EuroEPINOMICS CoGIE Consortium,, Pendziwiat, M., Stephani, U., Coppola, A., Kasteleijn-Nolst Trenité, D.G.A., Myers, CT, Chinthapalli, V. K., Krishna Chinthapalli, V., Stephani, U, Del Gaudio, L., de Kovel, C.G.F., Scheffer, I.E., De Kovel, CGF, Chinthapalli, VK, Veggiotti, P., Lehesjoki, AE, Jacmin, M., Drury, S., Piccioli, M., Berkovic, S. F., Esguerra, C., Trenite, D., Martins, T.G., Chinthapalli, V., Thiele, H, Kasteleijn-Nolst Trenité, DG, Lehesjoki, A., Crawford, A., Boustred, C., Lerche, H, Moller, R., Galizia, E. C., Ruppert, A. -K., Helbig, I, Schubert, J, Schneider, A. L., Mefford, H.C., Crawford, AD, Schubert, J., Schneider, A.L., Veggotti, P, Esguerra, CV, Striano, S., Ruppert, A., Berkovic, S., Galizia, EC, Cordero-Maldonado, M., Leu, C., Mefford, H. C., Martins, T. G., Palotie, A, Crawford, A. D., Ruppert, A.K., Covanis, A., Sisodiya, S., Ruppert, AK, Cordero-Maldonado, M. L., Møller, RS, Esguerra, C. V., Trenité, D. G. A. K. -N., Schneider, A., Coppola, A, Cantonetti, L, Leu, C, Del Gaudio, L, Cordero-Maldonado, ML, De Kovel, C. G. F., Berkovic, SF, Mullen, S. A., Trenité, DGAKN, Martins, T., Koeleman, BPC, Jacmin, M, Covanis, A, Boustred, C, Moller, RS, Martins, TG, Sisodiya, SM, Koeleman, B., Sander, T, Mullen, S.A., Sander, T., Nürnberg, P., Lehesjoki, A.E., Berkovic, S.F, Sisodiya, S.M., Mullen, SA, Cordero-Maldonado, M.L., Sadleir, L.G., Palotie, A., Pendziwiat, M, Parisi, P, Capovilla, G, Scheffer, I., Koeleman, BP, Gaudio, LD, Lerche, H., Mullen, S., Veggiotti, P, Myers, C.T., Scheffer, I. E., Koeleman, B. P. C., De Kovel, C., Piccioli, M, Esguerra, C.V., Sisodiya, S. M., Lehesjoki, A. -E., Afrikanova, T., de Kovel, CG, Mefford, HC, Koeleman, B.P.C., Drury, S, Scheffer, IE, Galizia, E.C., Schneider, AL, Mefford, H., Møller, R.S., Krause, R., Galizia, E., Crawford, A.D., Striano, S, Jocic-Jakubi, B, Lench, N., Sadleir, L.   +143 more
core   +1 more source

Unmasking of myoclonus by lacosamide in generalized epilepsy

Epilepsy and Behavior Case Reports, 2017
Lacosamide is a new-generation antiseizure medication that is approved for use as an adjunctive treatment and monotherapy in focal epilepsy. Its use in generalized epilepsy, however, has not been adequately evaluated in controlled trials.
Daniel Birnbaum, Mohamad Koubeissi
doaj   +1 more source

Thyroxine-Induced Absences in JME

Pediatric Neurology Briefs, 1996
A patient with juvenile myoclonic epilepsy (JME), manifested as absences at age 10 and myoclonic jerking and generalized tonic clonic seizures at age 15, was treated successfully with primidone at the King Fahad National Guard Hospital, Riyadh, Saudi ...
J Gordon Millichap
doaj   +1 more source

Trait impulsivity in Juvenile Myoclonic Epilepsy [PDF]

Annals of Clinical and Translational Neurology, 2020
AbstractObjectiveImpulsivity is a multidimensional construct that can predispose to psychopathology. Meta‐analysis demonstrates an association between response impulsivity and Juvenile Myoclonic Epilepsy (JME), a common genetic generalized epilepsy. Here, we test the hypotheses that trait impulsivity is (i) elevated in JME compared to controls; (ii ...
Shakeshaft A, Panjwani N, McDowall R, Crudgington H, Peña Ceballos J, Andrade DM, Beier CP, Fong CY, Gesche J, Greenberg DA, Hamandi K, Koht J, Lim KS, Orsini A, Rees MI, Rubboli G, Selmer KK, Smith AB, Striano P, Syvertsen M, Talvik I, Thomas RH, Zarubova J, Richardson MP, Strug LJ, Pal DK, BIOJUME Consortium   +26 more
openaire   +5 more sources

Juvenile myoclonic epilepsy. [PDF]

Archives of Disease in Childhood, 1988
The clinical and electroencephalographic features of 10 adolescents with juvenile myoclonic epilepsy are presented. The mean age on onset was 12.3 years. Myoclonic jerks, predominantly on awakening, occurred in all 10 and were associated with infrequent generalised tonic-clonic seizures in nine. Five had first degree relatives with seizures.
M J, Clement, S J, Wallace
openaire   +2 more sources

5,10-Methylenetetrahydrofolate Reductase Deficiency and Myoclonic Epilepsy

Pediatric Neurology Briefs, 2014
Investigators from the Children's Hospital of Philadelphia, PA, and McGill University, Montreal, Quebec, CA, report an adolescent learning-disabled girl who presented at age 14 years with an epilepsy syndrome initially diagnosed as juvenile myoclonic ...
J Gordon Millichap, John J Millichap
doaj   +1 more source

Juvenile Myoclonic Epilepsy

Neurosciences (Riyadh, Saudi Arabia), 2010
\s=b\ Juvenile myoclonic epilepsy is a common idiopathic generalized epileptic syndrome that occurs in 5% to 10% of patients with epilepsy. Despite this, it is still frequently unrecognized and misdiagnosed, even as epilepsy of focal onset. Juvenile myoclonic epilepsy usually responds well to treatment with appropriate anticonvulsants, and misdiagnosis
P.V. Motika, D.C. Bergen
  +6 more sources

Novel Genetic Locus for Generalized Tonic Clonic Epilepsy within the Juvenile Myoclonic Epilepsy Syndrome

Pediatric Neurology Briefs, 2005
A genome-wide scan of a large family with juvenile myoclonic epilepsy (JME), seen at the All India Institute of Medical Sciences, New Delhi, was conducted to test an hypothesis that 2 loci, one predisposing to generalized tonic clonic seizures (GTCS) and
J Gordon Millichap
doaj   +1 more source

Epidemiology of juvenile myoclonic epilepsy

Неврология, нейропсихиатрия, психосоматика, 2017
The article presents information on the definition of juvenile myoclonic epilepsy (JME) and current epidemiological data concerning its prevalence in Russia and foreign countries.Objective: to study the available publications on the epidemiological ...
O. S. Shilkina, N. A. Schnaider
doaj   +1 more source

Treatment of Juvenile Myoclonic Epilepsy [PDF]

CNS Neuroscience & Therapeutics, 2008
Drug treatment of juvenile myoclonic epilepsy (JME) is mainly based on clinical experience and prospective and retrospective studies, with little evidence from randomized clinical trials. There are almost no head‐to‐head comparisons between old and new antiepileptic drugs (AEDs). Valproate is the drug of the first choice in men with JME.
openaire   +2 more sources