Results 111 to 120 of about 537,666 (200)

The Role of Focal Epilepsy Features in Defining SCN1A Mutation-positive Dravet Syndrome as Generalized and Focal Epilepsy. [PDF]

J Epilepsy Res, 2021
Ko YJ, Yoo IH, Lee J, Lee J, Yum MS, Ko TS, Kim H, Hwang H, Kim SY, Chae JH, Choi JE, Kim KJ, Lim BC.   +12 more
europepmc   +1 more source

The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in brief #957.

, 2007
Familial hemiplegic migraine (FHM) is a severe subtype of migraine with hemiparesis during attacks. We scanned 10 families with FHM without mutations in the CACNA1A (FHM1) and ATP1A2 (FHM2) genes.
Ferrari MD, Babini E, Dichgans M, Vanmolkot KR, Frants RR, van den Maagdenberg AM, Ramadan NM, Haan J, de Vries B, Freilinger T, Terwindt GM, Norris L, Stam AH, Pusch M   +13 more
core  

Variable expressivity of a novel mutation in the SCN1A gene leading to an autosomal dominant seizure disorder [PDF]

, 2011
Mutations in the SCN1A gene can cause a variety of dominantly inherited epilepsy syndromes. Severe phenotypes usually result from loss of function mutations, whereas missense mutations cause a milder phenotype by altering the sodium channel activity.
Sanger, W.G., A.A. Mhanni, W.G. Sanger, Hartley, J.N., Mhanni, A.A., A.E. Chudley, J.N. Hartley, E.L. Spriggs, Chudley, A.E., Spriggs, E.L.   +9 more
core   +1 more source

De novo mutations in SCN1A are associated with classic Rett syndrome: a case report

BMC Medical Genetics, 2018
Background Rett syndrome (RTT) is a neurodevelopmental disorder. In more than 95% of females with classic RTT a pathogenic mutation in MECP2 has been identified. This leaves a small fraction of classic cases with other genetic causes.
Mari Wold Henriksen, Kirstine Ravn, Benedicte Paus, Stephen von Tetzchner, Ola H Skjeldal   +4 more
doaj   +1 more source

Genetic analysis of human absence epilepsy [PDF]

, 2010
Idiopathic Mendelian epilepsies have been typically identified as channelopathies. Evidence suggests that mutations in genes encoding GABAA receptors, GABAB receptors or voltage-dependent calcium channels (VDCCs) may underlie childhood absence epilepsy ...
Robinson, R.A.
core  

IDENTIFICATION OF DISEASE GENES FOR RARE AUTOSOMAL RECESSIVE EPILEPTIC SYNDROMES BY HOMOZYGOSITY MAPPING [PDF]

, 2011
Introduction: The genetics of the most common neurological disorders, including epilepsy, with mendelian inheritance has been dissected in the last twenty years. However the genetic etiology of some rare epileptic conditions is still unknown.
Coppola, Antonietta
core   +1 more source

Transcriptomic and electrophysiological alterations underlying phenotypic variability in SCN1A-associated febrile seizures

Scientific Reports
Febrile seizures (FS) are a common childhood neurological condition triggered by fever in children without prior neurological disorders. While generally benign, some individuals, particularly those with complex FS or genetic predispositions, may develop ...
Stefania Scalise, Alessandro Gaeta, Elio Aprigliano, Valeria Lucchino, Raffaele Covello, Mariagrazia Talarico, Barbara Puccio, Pietro Hiram Guzzi, Pierangelo Veltri, Antonio Gambardella, Lilian Juliana Lissner, Alessandra Morano, Pierangelo Cifelli, Veronica Alfano, Eleonora Palma, Gerardo Perozziello, Gabriele Ruffolo, Giovanni Cuda, Elvira Immacolata Parrotta   +18 more
doaj   +1 more source

Mutacija SCN1A gena – genski uzrok epilepsije [PDF]

, 2015
Voltage-gated sodium channels are involved in the excitability of neurons, and are critical for the initiation and propagation of action potentials in neurons.
Radić Nišević, Jelena, Prpić, Igor, Sasso, Antun   +2 more
core   +1 more source

Not all SCN1A epileptic encephalopathies are Dravet syndrome

, 2017
Objective:To define a distinct SCN1A developmental and epileptic encephalopathy with early onset, profound impairment, and movement disorder.Methods:A case series of 9 children were identified with a profound developmental and epileptic encephalopathy ...
Candace T. Myers, Emily I. Mountier, Katherine C. Nickels, Gemma Carvill, Ingrid E. Scheffer, Simone Mandelstam, Charuta Joshi, Heather C. Mefford, Lynette G. Sadleir, Manju A. Kurian, Catherine DeVile, null null, Hema R. Murali, Deepak Gill, Elaine Wirrell, Suzanne Davis   +15 more
core   +1 more source

Modulation of GABAergic dysfunction due to SCN1A mutation linked to Hippocampal Sclerosis. [PDF]

Ann Clin Transl Neurol, 2020
Ruffolo G, Martinello K, Labate A, Cifelli P, Fucile S, Di Gennaro G, Quattrone A, Esposito V, Limatola C, Giangaspero F, Aronica E, Palma E, Gambardella A.   +12 more
europepmc   +1 more source