about
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.Autosomal dominant vasovagal syncope: clinical features and linkage to chromosome 15q26.Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy.The phenotypic spectrum of SCN8A encephalopathy.Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology.Rare copy number variants are an important cause of epileptic encephalopathies.GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.Do mutations in SCN1B cause Dravet syndrome?Increased nicotinamide nucleotide transhydrogenase levels predispose to insulin hypersecretion in a mouse strain susceptible to diabetes.Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families.Febrile infection-related epilepsy syndrome is not caused by SCN1A mutations.Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome.SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline.The spectrum of SCN1A-related infantile epileptic encephalopathies.Timing of de novo mutagenesis--a twin study of sodium-channel mutations.Progressive gait deterioration in adolescents with Dravet syndrome.De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study.Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective studyFamilial mesial temporal lobe epilepsy: a benign epilepsy syndrome showing complex inheritanceMutations inPRRT2are not a common cause of infantile epileptic encephalopathiesDe novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal originA new molecular mechanism for severe myoclonic epilepsy of infancy: Exonic deletions in SCN1ADetection of microchromosomal aberrations in refractory epilepsy: a pilot study
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Jacinta M McMahon
@ast
Jacinta M McMahon
@en
Jacinta M McMahon
@es
Jacinta M McMahon
@nl
type
label
Jacinta M McMahon
@ast
Jacinta M McMahon
@en
Jacinta M McMahon
@es
Jacinta M McMahon
@nl
prefLabel
Jacinta M McMahon
@ast
Jacinta M McMahon
@en
Jacinta M McMahon
@es
Jacinta M McMahon
@nl
P106
P1153
7201909616
P31
P496
0000-0001-8891-0049