Xenia Iona
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Explore the profile of Xenia Iona including associated specialties, affiliations and a list of published articles.
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16
Citations
730
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Recent Articles
1.
Puskarjov M, Seja P, Heron S, Williams T, Ahmad F, Iona X, et al.
EMBO Rep
. 2014 Mar;
15(6):723-9.
PMID: 24668262
Genetic variation in SLC12A5 which encodes KCC2, the neuron-specific cation-chloride cotransporter that is essential for hyperpolarizing GABAergic signaling and formation of cortical dendritic spines, has not been reported in human...
2.
Kim Y, Bellows S, McMahon J, Iona X, Damiano J, Dibbens L, et al.
Dev Med Child Neurol
. 2013 Dec;
56(1):85-90.
PMID: 24328833
Aim: To show that atypical multifocal Dravet syndrome is a recognizable, electroclinical syndrome associated with sodium channel gene (SCN1A) mutations that readily escapes diagnosis owing to later cognitive decline and...
3.
Mulley J, Hodgson B, McMahon J, Iona X, Bellows S, Mullen S, et al.
Epilepsia
. 2013 Jul;
54(9):e122-6.
PMID: 23895530
Mutations of the SCN1A subunit of the sodium channel is a cause of genetic epilepsy with febrile seizures plus (GEFS(+) ) in multiplex families and accounts for 70-80% of Dravet...
4.
Klein K, Bromhead C, Smith K, OCallaghan C, Corcoran S, Heron S, et al.
Neurology
. 2013 Apr;
80(16):1485-93.
PMID: 23589636
Objective: To establish the occurrence of an autosomal dominant form of vasovagal syncope (VVS) by detailed phenotyping of multiplex families and identification of the causative locus. Methods: Patients with VVS...
5.
Dibbens L, de Vries B, Donatello S, Heron S, Hodgson B, Chintawar S, et al.
Nat Genet
. 2013 Apr;
45(5):546-51.
PMID: 23542697
The majority of epilepsies are focal in origin, with seizures emanating from one brain region. Although focal epilepsies often arise from structural brain lesions, many affected individuals have normal brain...
6.
Kim Y, Dibbens L, Marini C, Suls A, Chemaly N, Mei D, et al.
Epilepsy Res
. 2012 Nov;
103(1):97-100.
PMID: 23182416
A homozygous SCN1B mutation was previously identified in a patient with early onset epileptic encephalopathy (EOEE) described as Dravet syndrome (DS) despite a more severe phenotype than DS. We investigated...
7.
Scheffer I, Grinton B, Heron S, Kivity S, Afawi Z, Iona X, et al.
Neurology
. 2012 Oct;
79(21):2104-8.
PMID: 23077018
Objective: Benign familial infantile epilepsy (BFIE) is an autosomal dominant epilepsy syndrome characterized by afebrile seizures beginning at about 6 months of age. Mutations in PRRT2, encoding the proline-rich transmembrane...
8.
Carranza Rojo D, Harvey A, Iona X, Dibbens L, Damiano J, Arsov T, et al.
Epilepsy Res
. 2012 Mar;
100(1-2):194-8.
PMID: 22386634
Two distinctive epileptic encephalopathies, febrile infection-related epilepsy syndrome (FIRES) and Dravet syndrome (DS), present with febrile status epilepticus in a normal child followed by refractory focal seizures and cognitive decline...
9.
Heron S, Grinton B, Kivity S, Afawi Z, Zuberi S, Hughes J, et al.
Am J Hum Genet
. 2012 Jan;
90(1):152-60.
PMID: 22243967
Benign familial infantile epilepsy (BFIE) is a self-limited seizure disorder that occurs in infancy and has autosomal-dominant inheritance. We have identified heterozygous mutations in PRRT2, which encodes proline-rich transmembrane protein...
10.
Mulley J, Iona X, Hodgson B, Heron S, Berkovic S, Scheffer I, et al.
Neurol Res Int
. 2011 Jul;
2011:917565.
PMID: 21785725
Sixty cases of febrile seizures from a Chinese cohort had previously been reported with a strong association between variants in the seizure-related (SEZ) 6 gene and febrile seizures. They found...