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Early onset or syndromic epilepsy v9.76 ATP1A2 Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype updated 2nd Sept 2026.
Early onset or syndromic epilepsy v9.76 ATP1A2 Ida Ertmanska 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 Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, OMIM:619602; fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MONDO:0859204; Developmental and epileptic encephalopathy 98, OMIM:619605; developmental and epileptic encephalopathy 98, MONDO:0030472
Early onset or syndromic epilepsy v9.75 ATP1A2 Ida Ertmanska Publications for gene: ATP1A2 were set to 15159495; 29610157; 28058944; 18028407; 12953268
Early onset or syndromic epilepsy v9.74 ATP1A2 Ida Ertmanska Tag Q3_26_promote_green was removed from gene: ATP1A2.
Tag Q3_26_MOI tag was added to gene: ATP1A2.
Early onset or syndromic epilepsy v9.74 ATP1A2 Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: ATP1A2.
Early onset or syndromic epilepsy v9.74 ATP1A2 Ida Ertmanska changed review comment from: Comment on mode of inheritance: There are now at least 7 unrelated families reported in literature with biallelic ATP1A2 variants and; to: Comment on mode of inheritance: There are now at least 7 unrelated families reported in literature with biallelic ATP1A2 variants and the 'Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies' syndrome. 2 unrelated individuals presented with epilepsy shortly after birth, and 2 further cases were reported with in-utero seizures. Hence, the mode of inheriatance should be changed from 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' at the next update.
Early onset or syndromic epilepsy v9.74 ATP1A2 Ida Ertmanska commented on gene: ATP1A2: Comment on mode of inheritance: There are now at least 7 unrelated families reported in literature with biallelic ATP1A2 variants and
Early onset or syndromic epilepsy v9.74 ATP1A2 Ida Ertmanska edited their review of gene: ATP1A2: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v9.74 ATP1A2 Ida Ertmanska edited their review of gene: ATP1A2: Changed publications to: 28811059, 31608932, 30690204, 37870493, 38549198, 39046620
Early onset or syndromic epilepsy v9.74 ATP1A2 Ida Ertmanska changed review comment from: BIALLELIC CASES:
PMID: 28811059 Wilbur et al., 2017
Report of a boy who presented at age three months with epilepsy, nonepileptic paroxysmal events, and recurrent hemiplegia. WES identified ATP1A2 comp het variants (p.Arg548Cys) & (p.Arg1008Trp).

PMID: 31608932 Chatron et al., 2019
Report of four cases from 2 independent families with recessive lethal syndromic polymicrogyria. Examination revealed a common pattern associating meningeal arterial calcifications, necrotic and calcified areas in basal ganglia, dentato-olivary dysplasia and severe hypoplasia/agenesis of the pyramidal tracts. Probands from both families were homozygous for unique nonsense variants in ATP1A2.

PMID: 30690204 Monteiro et al., 2020
Report of three newborns from two unrelated families, who died neonatally, presenting in utero with an unusual form of fetal hydrops, seizures and polyhydramnios. At birth they had multiple joint contractures, microcephaly, malformations of cortical development, dysmorphic features and severe respiratory insufficiency. Biallelic LoF variants in ATP1A2 were found on WES.
P1 & P2 - affected sibs, male and female, Brazilian. Seizures developed soon after birth in P1, and in-utero seizures suspected by the mother in P2. P2 was homozygous for NM_000702: c.2104_2105delTG, p.(Cys702Serfs*12). P1 confirmed to be homozygous for the same variant with Sanger seq, unaffected parents were het.
P3 - Hispanic female neonate. Abnormal fetal movements noted, consistent with seizure activity. WES identified a homozygous ATP1A2 c.835del, p.(Arg279Glyfs*4) variant.

PMID: 37870493 Furukawa et al., 2023
Male individual born at 28 weeks, with respiratory distress and tonic seizures soon after birth. At 10 months presented with hypotonia, cryptorchidism, generalised tonic and facial clonic seizures, no eye contact or social responses. Brain MRI showed a markedly simplified gyral pattern. He was compound heterozygous for ATP1A2: c.1234C>T, p.Arg412* & ATP1A2: c.2288G>T, p.Arg763Leu - confirmed in trans.; to: BIALLELIC CASES:
PMID: 28811059 Wilbur et al., 2017
Report of a boy who presented at age three months with epilepsy, nonepileptic paroxysmal events, and recurrent hemiplegia. WES identified ATP1A2 comp het variants (p.Arg548Cys) & (p.Arg1008Trp).

PMID: 31608932 Chatron et al., 2019
Report of four cases from 2 independent families with recessive lethal syndromic polymicrogyria. Examination revealed a common pattern associating meningeal arterial calcifications, necrotic and calcified areas in basal ganglia, dentato-olivary dysplasia and severe hypoplasia/agenesis of the pyramidal tracts. Probands from both families were homozygous for unique nonsense variants in ATP1A2.

PMID: 30690204 Monteiro et al., 2020
Report of three newborns from two unrelated families, who died neonatally, presenting in utero with an unusual form of fetal hydrops, seizures and polyhydramnios. At birth they had multiple joint contractures, microcephaly, malformations of cortical development, dysmorphic features and severe respiratory insufficiency. Biallelic LoF variants in ATP1A2 were found on WES.
P1 & P2 - affected sibs, male and female, Brazilian. Seizures developed soon after birth in P1, and in-utero seizures suspected by the mother in P2. P2 was homozygous for NM_000702: c.2104_2105delTG, p.(Cys702Serfs*12). P1 confirmed to be homozygous for the same variant with Sanger seq, unaffected parents were het.
P3 - Hispanic female neonate. Abnormal fetal movements noted, consistent with seizure activity. WES identified a homozygous ATP1A2 c.835del, p.(Arg279Glyfs*4) variant.

PMID: 37870493 Furukawa et al., 2023
Male individual born at 28 weeks, with respiratory distress and tonic seizures soon after birth. At 10 months presented with hypotonia, cryptorchidism, generalised tonic and facial clonic seizures, no eye contact or social responses. Brain MRI showed a markedly simplified gyral pattern. He was compound heterozygous for ATP1A2: c.1234C>T, p.Arg412* & ATP1A2: c.2288G>T, p.Arg763Leu - confirmed in trans.

PMID: 39046620 Hassani & Malekzadeh, 2024
Report of an Iranian consanguineous family with 2 newborn sibs affected by Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies 'FARIMPD' syndrome. Both passed away within the first 24 hrs after birth. Homozygous c.1234C>T, p.Arg412* variant in ATP1A2 found by WES in the newborns.

PMID: 38549198 Burrill et al., 2024
Report of diamniotic twins, one of them affected. Fetal ultrasound and MRI of the affected twin demonstrated microcephaly, severe VM, compression of the corpus callosum, scalp and nuchal thickening, elongated ears, bilateral talipes, right-sided congenital diaphragmatic hernia (CDH), and loss of normal cerebral architecture. The proband passed away within the first hour of life due to respiratory compromise. Postmortem trio WES identified a homozygous ATP1A2 (c.2439+1G>A) variant as causal.
Early onset or syndromic epilepsy v9.74 ATP1A2 Ida Ertmanska edited their review of gene: ATP1A2: Changed publications to: 28811059, 31608932, 30690204, 37870493
Early onset or syndromic epilepsy v9.74 ATP1A2 Ida Ertmanska changed review comment from: BIALLELIC CASES:
PMID: 28811059 Wilbur et al., 2017
Report of a boy who presented at age three months with epilepsy, nonepileptic paroxysmal events, and recurrent hemiplegia. WES identified ATP1A2 comp het variants (p.Arg548Cys) & (p.Arg1008Trp).

PMID: 31608932 Chatron et al., 2019
Report of four cases from 2independent families with recessive lethal syndromic polymicrogyria. Examination revealed a common pattern associating meningeal arterial calcifications, necrotic and calcified areas in basal ganglia, dentato-olivary dysplasia and severe hypoplasia/agenesis of the pyramidal tracts.

PMID: 30690204 Monteiro et al., 2020
Report of three newborns from two unrelated families, who died neonatally, presenting in utero with an unusual form of fetal hydrops, seizures and polyhydramnios. At birth they had multiple joint contractures, microcephaly, malformations of cortical development, dysmorphic features and severe respiratory insufficiency. Biallelic LoF variants in ATP1A2 were found on WES.
P2 was homozygous for NM_000702: c.2104_2105delTG, p.(Cys702Serfs*12).; to: BIALLELIC CASES:
PMID: 28811059 Wilbur et al., 2017
Report of a boy who presented at age three months with epilepsy, nonepileptic paroxysmal events, and recurrent hemiplegia. WES identified ATP1A2 comp het variants (p.Arg548Cys) & (p.Arg1008Trp).

PMID: 31608932 Chatron et al., 2019
Report of four cases from 2 independent families with recessive lethal syndromic polymicrogyria. Examination revealed a common pattern associating meningeal arterial calcifications, necrotic and calcified areas in basal ganglia, dentato-olivary dysplasia and severe hypoplasia/agenesis of the pyramidal tracts. Probands from both families were homozygous for unique nonsense variants in ATP1A2.

PMID: 30690204 Monteiro et al., 2020
Report of three newborns from two unrelated families, who died neonatally, presenting in utero with an unusual form of fetal hydrops, seizures and polyhydramnios. At birth they had multiple joint contractures, microcephaly, malformations of cortical development, dysmorphic features and severe respiratory insufficiency. Biallelic LoF variants in ATP1A2 were found on WES.
P1 & P2 - affected sibs, male and female, Brazilian. Seizures developed soon after birth in P1, and in-utero seizures suspected by the mother in P2. P2 was homozygous for NM_000702: c.2104_2105delTG, p.(Cys702Serfs*12). P1 confirmed to be homozygous for the same variant with Sanger seq, unaffected parents were het.
P3 - Hispanic female neonate. Abnormal fetal movements noted, consistent with seizure activity. WES identified a homozygous ATP1A2 c.835del, p.(Arg279Glyfs*4) variant.

PMID: 37870493 Furukawa et al., 2023
Male individual born at 28 weeks, with respiratory distress and tonic seizures soon after birth. At 10 months presented with hypotonia, cryptorchidism, generalised tonic and facial clonic seizures, no eye contact or social responses. Brain MRI showed a markedly simplified gyral pattern. He was compound heterozygous for ATP1A2: c.1234C>T, p.Arg412* & ATP1A2: c.2288G>T, p.Arg763Leu - confirmed in trans.
Early onset or syndromic epilepsy v9.74 ATP1A2 Ida Ertmanska reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28811059, 31608932, 30690204; Phenotypes: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, OMIM:619602, fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MONDO:0859204; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.228 ATP1A2 Rebecca Foulger Marked gene: ATP1A2 as ready
Early onset or syndromic epilepsy v1.228 ATP1A2 Rebecca Foulger Gene: atp1a2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy 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.
Early onset or syndromic epilepsy v1.191 ATP1A2 Rebecca Foulger Source Wessex and West Midlands GLH was added to ATP1A2.
Early onset or syndromic epilepsy v1.190 ATP1A2 Rebecca Foulger Source NHS GMS was added to ATP1A2.
Early onset or syndromic epilepsy 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
Early onset or syndromic epilepsy 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
Early onset or syndromic epilepsy v1.48 ATP1A2 Rebecca Foulger Classified gene: ATP1A2 as Green List (high evidence)
Early onset or syndromic epilepsy 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%.
Early onset or syndromic epilepsy v1.48 ATP1A2 Rebecca Foulger Gene: atp1a2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy 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.
Early onset or syndromic epilepsy 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.
Early onset or syndromic epilepsy 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.
Early onset or syndromic epilepsy 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).
Early onset or syndromic epilepsy 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
Early onset or syndromic epilepsy 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.
Early onset or syndromic epilepsy 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
Early onset or syndromic epilepsy 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.
Early onset or syndromic epilepsy v1.42 ATP1A2 Rebecca Foulger Publications for gene: ATP1A2 were set to 15159495; 29610157
Early onset or syndromic epilepsy v1.13 ATP1A2 Deb Pal edited their review of gene: ATP1A2: Changed publications: 18028407, 9579893, 12953268
Early onset or syndromic epilepsy 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
Early onset or syndromic epilepsy v0.470 ATP1A2 Sarah Leigh Marked gene: ATP1A2 as ready
Early onset or syndromic epilepsy v0.470 ATP1A2 Sarah Leigh Gene: atp1a2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy ATP1A2 Zornitza Stark reviewed gene: ATP1A2
Early onset or syndromic epilepsy ATP1A2 Sarah Leigh classified ATP1A2 as Amber List (moderate evidence)
Early onset or syndromic epilepsy ATP1A2 Sarah Leigh Added gene to panel