Back to Topics Listing
May 1, 2016
Casali RL, Amaral MI, Boscariol M, Lunardi LL, Guerreiro MM, Matas CG, Colella-Santos MF
The abnormal brain discharges observed in benign childhood epilepsy with centrotemporal spikes (BECTS) and temporal lobe epilepsy (TLE) are located close to areas responsible for auditory and language processing. This ...
May 1, 2016
Kahle KT, Khanna AR, Duan J, Staley KJ, Delpire E, Poduri A
The cation-Cl(-) cotransporter KCC2, encoded by SLC12A5, is required for the emergence and maintenance of GABAergic fast synaptic inhibition in organisms across evolution. These findings have suggested that KCC2 defici...
May 1, 2016
Granata F, Morabito R, Mormina E, Alafaci C, Marino S, Laganà A, Vinci SL, Briguglio M, Calamuneri A, Gaeta M, Salpietro V, Longo M
PURPOSE: The aim of this work was to investigate the diagnostic value of the DIR sequence at 3T MR imaging operating in the evaluation of cortical development anomalies. METHODS: We studied 40 patients, with a ...
Apr 30, 2016
Joshi S, Rajasekaran K, Hawk KM, Brar J, Ross BM, Tran CA, Chester SJ, Goodkin HP
OBJECTIVES: To determine if the activity-dependent trafficking of γ2 subunit-containing γ-aminobutyric acid type A receptors (GABAA Rs) that has been observed in older animals and posited to contribute to benzodiazepin...
Apr 30, 2016
Szabó CÁ, Morgan LC, Karkar KM, Leary LD, Lie OV, Girouard M, Cavazos JE
OBJECTIVE: Automatic detection of generalized tonic-clonic seizures (GTCS) will facilitate patient monitoring and early intervention to prevent comorbidities, recurrent seizures, or death. Brain Sentinel (San Antonio, ...
Apr 30, 2016
Ohba C, Kato M, Takahashi N, Osaka H, Shiihara T, Tohyama J, Nabatame S, Azuma J, Fujii Y, Hara M, Tsurusawa R, Inoue T, Ogata R, Watanabe Y, Togashi N, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Tanaka F, Saitsu H, Matsumoto N
KCNT1 mutations have been found in epilepsy of infancy with migrating focal seizures (EIMFS; also known as migrating partial seizures in infancy), autosomal dominant nocturnal frontal lobe epilepsy, and other types of ...
Apr 30, 2016
Fukasawa T, Kubota T, Tanaka M, Asada H, Matsusawa K, Hattori T, Kato Y, Negoro T
Many children with trisomy 18 have apneas from the neonatal period. It has been reported that some children with trisomy 18 have epilepsy, including epileptic apneas. However, no previous report has described epileptic...
Apr 30, 2016
Totadri S, Radhakrishnan V, Raja A, Sagar TG
Apr 30, 2016
Møller RS, Heron SE, Larsen LH, Lim CX, Ricos MG, Bayly MA, van Kempen MJ, Klinkenberg S, Andrews I, Kelley K, Ronen GM, Callen D, McMahon JM, Yendle SC, Carvill GL, Mefford HC, Nabbout R, Poduri A, Striano P, Baglietto MG, Zara F, Smith NJ, Pridmore C, Gardella E, Nikanorova M, Dahl HA, Gellert P, Scheffer IE, Gunning B, Kragh-Olsen B, Dibbens LM
Autosomal dominant mutations in the sodium-gated potassium channel subunit gene KCNT1 have been associated with two distinct seizure syndromes, nocturnal frontal lobe epilepsy (NFLE) and malignant migrating focal seizu...
Apr 30, 2016
Takeuchi A, Okamoto N, Fujinaga S, Morita H, Shimizu J, Akiyama T, Ninomiya S, Takanashi J, Kubo T
Schinzel-Giedion syndrome is a rare congenital malformation syndrome. Recently, SETBP1 was identified as the causative gene. Herein, we present a Japanese boy with Schinzel-Giedion syndrome resulting from a novel mutat...

Pages