Search Results - "De Saint Martin, A."

EEG criteria predictive of complicated evolution in idiopathic rolandic epilepsy by MASSA, R, DE SAINT-MARTIN, A, CARCANGIU, R, RUDOLF, G, SEEGMULLER, C, KLEITZ, C, METZ-LUTZ, M. N, HIRSCH, E, MARESCAUX, C

“…Although so-called "benign" epilepsy with centrotemporal spikes (BECTS) always has an excellent prognosis with regard to seizure remission, behavioral problems…”
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Tuberous sclerosis complex and epilepsy in infancy: prevention and early diagnosis by de Saint Martin, A., Napuri, S., Nguyen, S.

“…Numerous studies showed that epilepsy represents a high burden in Tuberous Sclerosis Complex (TSC), affecting 63 to 78% of the patients. Epilepsy will be…”
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Drug-resistant generalized epilepsies: Revisiting the frontiers of idiopathic generalized epilepsies by Gauer, L., Baer, S., Valenti-Hirsch, M.-P., De Saint-Martin, A., Hirsch, E.

“…The 2017 International League Against Epilepsy (ILAE) classification suggested that the term “genetic generalized epilepsies” (GGEs) should be used for the…”
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Idiopathic Rolandic Epilepsy with “Interictal” Facial Myoclonia and Oromotor Deficit: A Longitudinal EEG and PET Study by Saint‐Martin, A., Petiau, C., Massa, R., Maquet, P., Marescaux, C., Hirsch, E., Metz‐Lutz, M‐N.

“…Purpose: The prognosis of benign epilepsy with centrotemporal spikes (BECTS) is always favorable as far as the epilepsy is concerned. However, some data…”
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Pathways to epilepsy surgery in children with tuberous sclerosis complex-associated epilepsy by Gauer, L., Lagarde, S., Valenti-Hirsch, M.-P., Makhalova, J., Milh, M., Baer, S., Lepine, A., Ollivier, I., Scavarda, D., Hirsch, E., Bartolomei, F., De Saint-Martin, A., Villeneuve, N.

“…•Epilepsy surgery is an effective treatment for selected patients TSC.•Evolution to drug-sensitive epilepsy is observed in patients without surgery.•Epileptic…”
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Efficacy of ketogenic diet in resistant myoclono-astatic epilepsy: A french multicenter retrospective study by de Saint-Martin, A, Stenger, E, Schaeffer, M, Cances, C, Motte, J, Auvin, S, Ville, D, Maurey, H, Nabbout, R

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Long term outcome of patients with Epilepsy with migrating focal seizure in infancy (EMFSI) due to KCNT1 mutation by Kuchenbuch, M, Kaminska, A, Chemaly, N, Gibaud, M, de Saint Martin, A, Dubois, F, Sarret, C, Wendling, F, Benquet, P, Nabbout, R

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Postencephalitic stereotyped involuntary movements responsive to L-Dopa by Picard, F, de Saint-Martin, A, Salmon, E, Hirsch, E, Marescaux, C

“…In 1954, at the age of 5 years, our patient had an encephalitic syndrome associated with a prolonged lethargic state. After this episode, he developed a severe…”
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Is there a bridge between migraine and familial mesial temporal lobe epilepsy? by Valenti, M P, Cretin, B, Rudolf, G, Dylgjeri, S, De Saint-Martin, A, Hirsch, E

“…Numerous reviews have emphasized the links between certain types of epilepsy and migraine. Historically, Gowers was one of the first, in 1907, to have drawn…”
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ESO04 Regression of regional cerebral glucose metabolism abnormalities in the recovery phase of CSWS by De Tiège, X, Ligot, N, Poznanski, N, de Saint Martin, A, Goldman, S, Van Bogaert, P

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Two cousins with partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of the chromosome 12 by Lagier‐Tourenne, Clotilde, Ginglinger, E., Alembik, Y., De Saint Martin, A., Peter, M.O., Dulucq, P., Jonveaux, P., Jeandidier, E.

“…Partial trisomy 12q and monosomy 12p lead to multiple malformation syndromes. Instead of trisomy 12q that has been reported as a clinically identifiable…”
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New Insights into the Clinical Management of Partial Epilepsies by Hirsch, Edouard, Saint‐Martin, Anne, Arzimanoglou, Alexis

“…Summary The diagnosis, treatment, and prognosis of seizure disorders depend on the correct identification of epileptic syndromes. Partial epilepsies are…”
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Benign childhood epilepsy with centrotemporal spikes: is it always benign? by de Saint-Martin, A, Massa, R, Metz-Lutz, M N, Hirsch, E, Marescaux, C

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Efficacy of lamotrigine in idiopathic generalized epilepsy syndromes: a video‐EEG‐controlled, open study by Gericke, Christian A., Picard, Fabienne, Saint‐Martin, Anne, Strumia, Sylvia, Marescaux, Christian, Hirsch, Edouard

“…ABSTRACT Purpose This prospective, open, video‐EEG‐controlled study examined the efficacy of lamotrigine (LTG) as add‐on and monotherapy in idiopathic…”
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Intelligence quotient improves after antiepileptic drug withdrawal following pediatric epilepsy surgery by Boshuisen, Kim, van Schooneveld, Monique M. J., Uiterwaal, Cuno S. P. M., Cross, J. Helen, Harrison, Sue, Polster, Tilman, Daehn, Marion, Djimjadi, Sarina, Yalnizoglu, Dilek, Turanli, Guzide, Sassen, Robert, Hoppe, Christian, Kuczaty, Stefan, Barba, Carmen, Kahane, Philippe, Schubert-Bast, Susanne, Reuner, Gitta, Bast, Thomas, Strobl, Karl, Mayer, Hans, de Saint-Martin, Anne, Seegmuller, Caroline, Laurent, Agathe, Arzimanoglou, Alexis, Braun, Kees P. J.

“…Objective Antiepileptic drugs (AEDs) have cognitive side effects that, particularly in children, may affect intellectual functioning. With the TimeToStop (TTS)…”
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Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development by Ivanova, Ekaterina L., Mau-Them, Frédéric Tran, Riazuddin, Saima, Kahrizi, Kimia, Laugel, Vincent, Schaefer, Elise, de Saint Martin, Anne, Runge, Karen, Iqbal, Zafar, Spitz, Marie-Aude, Laura, Mary, Drouot, Nathalie, Gérard, Bénédicte, Deleuze, Jean-François, de Brouwer, Arjan P.M., Razzaq, Attia, Dollfus, Hélène, Assir, Muhammad Zaman, Nitchké, Patrick, Hinckelmann, Maria-Victoria, Ropers, Hilger, Riazuddin, Sheikh, Najmabadi, Hossein, van Bokhoven, Hans, Chelly, Jamel

“…Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare recessive disorders with prenatal onset, characterized by hypoplasia of pons and cerebellum…”
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Structural mapping of GABRB3 variants reveals genotype–phenotype correlations by Johannesen, Katrine M., Iqbal, Sumaiya, Guazzi, Milena, Mohammadi, Nazanin A., Pérez-Palma, Eduardo, Schaefer, Elise, De Saint Martin, Anne, Abiwarde, Marie Therese, McTague, Amy, Pons, Roser, Piton, Amelie, Kurian, Manju A., Ambegaonkar, Gautam, Firth, Helen, Sanchis-Juan, Alba, Deprez, Marie, Jansen, Katrien, De Waele, Liesbeth, Briltra, Eva H., Verbeek, Nienke E., van Kempen, Marjan, Fazeli, Walid, Striano, Pasquale, Zara, Federico, Visser, Gerhard, Braakman, Hilde M.H., Haeusler, Martin, Elbracht, Miriam, Vaher, Ulvi, Smol, Thomas, Lemke, Johannes R., Platzer, Konrad, Kennedy, Joanna, Klein, Karl Martin, Au, Ping Yee Billie, Smyth, Kimberly, Kaplan, Julie, Thomas, Morgan, Dewenter, Malin K., Dinopoulos, Argirios, Campbell, Arthur J., Lal, Dennis, Lederer, Damien, Liao, Vivian W.Y., Ahring, Philip K., Møller, Rikke S., Gardella, Elena

“…Pathogenic variants in GABRB3 have been associated with a spectrum of phenotypes from severe developmental disorders and epileptic encephalopathies to milder…”
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Early dissociation of verbal and nonverbal gestural ability in an epileptic deaf child by Metz-Lutz, M. N., De Saint Martin, A., Monpiou, S., Massa, R., Hirsch, E., Marescaux, C.

“…Studies of sign language aphasia in deaf adults have provided the evidence for two separable verbal and nonverbal manual gesture systems. We report a…”
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An unusual human mosaic for skin pigmentation by Stoll, C, Alembik, Y, Grosshans, E, de Saint Martin, A

“…Patterned pigmentary disturbances are seen in a large variety of human genetic disorders. Cytogenetic studies have provided evidence that such skin lesions…”
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Pathophysiological accounts of language impairments in Landau‐Kleffner syndrome by Metz‐Lutz, Marie‐Noëlle, Saint‐Martin, Anne

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