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Genetic epilepsy syndromes v1.228 ATP1A2 Rebecca Foulger Marked gene: ATP1A2 as ready
Genetic epilepsy syndromes v1.228 ATP1A2 Rebecca Foulger Gene: atp1a2 has been classified as Green List (High Evidence).
Genetic epilepsy syndromes v1.228 ATP1A2 Rebecca Foulger commented on gene: ATP1A2: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is sufficient evidence to rate this gene Green. Kept rating as Green.
Genetic epilepsy syndromes v1.191 ATP1A2 Rebecca Foulger Source Wessex and West Midlands GLH was added to ATP1A2.
Genetic epilepsy syndromes v1.190 ATP1A2 Rebecca Foulger Source NHS GMS was added to ATP1A2.
Genetic epilepsy syndromes v1.189 ATP1A2 Rebecca Foulger edited their review of gene: ATP1A2: Added comment: Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: Alison Callaway and John Taylor. Suggested gene rating: Amber. ; Changed rating: AMBER
Genetic epilepsy syndromes v1.188 ATP1A2 Tracy Lester reviewed gene: ATP1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: 15159495; Phenotypes: Alternating hemiplegia of childhood 1, 104290 , Migraine familial basilar, 602481 , Migraine, familial hemiplegic, 2, 602481; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic epilepsy syndromes v1.48 ATP1A2 Rebecca Foulger Classified gene: ATP1A2 as Green List (high evidence)
Genetic epilepsy syndromes v1.48 ATP1A2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green after discussion with Sarah Leigh; Sufficient cases from PMIDs:28058944, 18028407 and 12953268 of patients with familial hemiplegic migraine (FHM) also exhibiting seizures; PMID:28058944 (Prontera et al., 2018) calculate a co-occurrence of ~30%.
Genetic epilepsy syndromes v1.48 ATP1A2 Rebecca Foulger Gene: atp1a2 has been classified as Green List (High Evidence).
Genetic epilepsy syndromes v1.44 ATP1A2 Rebecca Foulger commented on gene: ATP1A2: PMID:28058944 (Prontera et al., 2018) performed a review of the comorbidities of familial/sporadic hemiplegic migraine with seizure/epilepsy in patients with CACNA1A, ATP1A2 or SCN1A mutations. For patients carrying ATP1A2 variants, 30.9% of migraine patients also had seizures. Of 180 patients (27 families): 62 patients had epilepsy.
Genetic epilepsy syndromes v1.44 ATP1A2 Rebecca Foulger commented on gene: ATP1A2: Vanmolkot et al., 2003 (PMID:12953268) describe novel variants in ATP1A2 in two families with FHM. The M731T mutation was found in a family with pure FHM. The R689Q variant was identified in a family in which FHM and benign familial infantile convulsions partially cosegregate; all available affected family members with FHM, benign familial infantile convulsions, or both, carried the ATP1A2 mutation.
Genetic epilepsy syndromes v1.44 ATP1A2 Rebecca Foulger commented on gene: ATP1A2: PMID:18028407 (Deprez et al., 2008) found ATP1A2 variants in 2/20 families (p.Gly900Arg and p.Cys702Tyr). In the two families, 6 variant carriers had the combination of epilepsy and migraine, 2 had only epilepsy, and 6 six had only migraine.
Genetic epilepsy syndromes v1.44 ATP1A2 Rebecca Foulger Added comment: Comment on phenotypes: OMIM reports Generalized tonic-clonic seizures in 50% patients with 'Alternating hemiplegia of childhood 1' (MIM:104290) but says seizures are less common in Migraine, familial basilar/Migraine, familial hemiplegic, 2 (OMIM:602481).
Genetic epilepsy syndromes v1.44 ATP1A2 Rebecca Foulger Phenotypes for gene: ATP1A2 were changed from Alternating hemiplegia of childhood 1, 104290; Migraine, familial basilar, 602481; Migraine, familial hemiplegic, 2, 602481; benign familial infantile convulsions; epilepsy and migraine; occipitotemporal epilepsy; infantile epileptic syndrome to Alternating hemiplegia of childhood 1, 104290; Migraine, familial basilar, 602481; Migraine, familial hemiplegic, 2, 602481; benign familial infantile convulsions; epilepsy and migraine; occipitotemporal epilepsy; infantile epileptic syndrome
Genetic epilepsy syndromes v1.43 ATP1A2 Rebecca Foulger commented on gene: ATP1A2: PMID:29610157 (Ueda et al., 2018) report a 12 year old boy with a history of complex partial seizures, ADHD and fine motor difficulty. WES revealed a de novo missense variant in ATP1A2, and a maternally inherited POLG VUS. The authors hypothesize that the ATP1A2 variant contributed to the patient's phenotype.
Genetic epilepsy syndromes v1.43 ATP1A2 Rebecca Foulger Phenotypes for gene: ATP1A2 were changed from Alternating hemiplegia of childhood 1 104290; Migraine, familial basilar 602481; Migraine, familial hemiplegic, 2 602481 to Alternating hemiplegia of childhood 1, 104290; Migraine, familial basilar, 602481; Migraine, familial hemiplegic, 2, 602481; benign familial infantile convulsions; epilepsy and migraine; occipitotemporal epilepsy; infantile epileptic syndrome
Genetic epilepsy syndromes v1.42 ATP1A2 Rebecca Foulger Added comment: Comment on publications: PMID:9579893 (Terwindt et al., 1997) studied a large Dutch-Canadian family in which familial hemiplegic migraine (FHM) and a benign familial infantile epileptic syndrome concur and partially cosegregate. The genetic basis of the conditions was not finalised. Note that ATP1A2 is on chromosome 1q23.2.
Genetic epilepsy syndromes v1.42 ATP1A2 Rebecca Foulger Publications for gene: ATP1A2 were set to 15159495; 29610157
Genetic epilepsy syndromes v1.13 ATP1A2 Deb Pal edited their review of gene: ATP1A2: Changed publications: 18028407, 9579893, 12953268
Genetic epilepsy syndromes v1.13 ATP1A2 Deb Pal reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18028407; Phenotypes: Familial hemiplegic migraine, Epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Genetic epilepsy syndromes v0.470 ATP1A2 Sarah Leigh Marked gene: ATP1A2 as ready
Genetic epilepsy syndromes v0.470 ATP1A2 Sarah Leigh Gene: atp1a2 has been classified as Amber List (Moderate Evidence).
Genetic epilepsy syndromes ATP1A2 Zornitza Stark reviewed gene: ATP1A2
Genetic epilepsy syndromes ATP1A2 Sarah Leigh classified ATP1A2 as Amber List (moderate evidence)
Genetic epilepsy syndromes ATP1A2 Sarah Leigh Added gene to panel