No evidence of ATP1A2 involvement in 12 multiplex Italian families with benign familial infantile seizures
Section snippets
Acknowledgments
We are grateful to the patients, to the Lega Italiana Contro l’Epilessia, to Drs. Amedeo Bianchi, Bernardo Dalla Bernardina, Roberto Gaggero, Antonio Gambardella, Maria Luisa Lispi, Greg B Nelson, Francesca Vanadio, Marilena Vecchi, Pierangelo Veggiotti, Federico Vigevano and Franco Viri for clinical data on their patients, and to the Agarini Foundation.
References (20)
- et al.
Benign familial infantile convulsions: a clinical study of seven Dutch families
Eur. J. Paediatr. Neurol.
(2002) - et al.
Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome
Am. J. Hum. Genet.
(2001) - et al.
Sodium-channel defects in benign familial neonatal–infantile seizures
Lancet
(2002) - et al.
Benign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity
Am. J. Hum. Genet.
(2001) - et al.
The Na, K-ATPase alpha 2 isoform is expressed in neurons, and its absence disrupts neuronal activity in newborn mice
J. Biol. Chem.
(2003) - et al.
Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16
Am. J. Hum. Genet.
(1997) - et al.
A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16
Neurology
(2000) - et al.
Benign familial neonatal–infantile seizures: characterization of a new sodium channelopathy
Ann. Neurol.
(2004) - et al.
Lack of association between temporal lobe epilepsy and a novel polymorphism in the alpha 2 subunit gene (ATP1A2) of the sodium potassium transporting ATPase
Am. J. Med. Genet.
(2000) - et al.
A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family
Nat. Genet.
(1998)
Cited by (8)
Common variants of ATP1A3 but not ATP1A2 are associated with Chinese genetic generalized epilepsies
2015, Journal of the Neurological SciencesCitation Excerpt :The Na/K-ATPases account for the majority of the energy consumption of the mammalian brain via the use of energy-rich ATP, and this biological process has been reported to be associated with neurological diseases in human beings [10]; e.g., alternating hemiplegia of childhood [8,10] and rapid-onset dystonia with parkinsonism [38,39]. Previous studies have examined whether ATP1A2 mutations are related to idiopathic generalized epilepsy, temporal lobe epilepsy and benign familial infantile seizures, but no significant variations have been found [40–42]. Moreover, other studies have indicated that epilepsy combined with migraine and benign familial infantile convulsions are associated with ATP1A2 mutations [6,11].
Benign infantile seizures: A prospective study
2010, Epilepsy ResearchCitation Excerpt :After that Vanmolkot et al. (2003) reported mutations in the Na+, K+-ATPase pump gene ATP1A2 situated at chromosome 1q23 associated with FHM and BFIS. In contrast, no mutation in ATP1A2 has been seen in families with pure BFIS, suggesting that BFIS with FHM and only BFIS are genetically different (Martinelli Boenschi et al., 2005). Recently a BFIS-like syndrome with late onset and febrile seizures has been presented as associated to chromosome 16p11.2–16q12.1 (Weber et al., 2008).
Linkage analysis and gene mapping of one Chinese family with benign familial infantile convulsions
2010, Chinese Journal of Contemporary PediatricsMigraine and epilepsy: Genetically linked?
2008, Expert Review of Neurotherapeutics