All individuals with variants in gene KCNA2

17 entries on 1 page. Showing entries 1 - 17.
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00080990 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - DEE32;EIEE32 Epileptic encephalopathy, early infantile, 32 (OMIM:616366) 1 1 Daniel Trujillano
00305982 Pat13 PubMed: Johannesen 2020 2-generation family, 1 affected, unaffected parents F - Denmark - - - - - epilepsy - 1 1 Johan den Dunnen
00317990 PKMR82 PubMed: Riazuddin 2017 - - yes Pakistan - - - - - ID Mild to moderate ID, speech delay, walking delay, epilepsy in v:3 and v:6, v:6 has strabismus 1 1 Johan den Dunnen
00413961 202323 - - M ? Turkey - - - - - DEE32;EIEE32 Seizure, Bilateral tonic-clonic seizure, Patchy alopecia, EEG abnormality 1 1 Andreas Laner
00419668 - - - F no Russia - - - - - DEE32;EIEE32 Focal-onset seizure HP:0007359, Neurodevelopmental delay HP:0012758, Intellectual disability HP:0001249, Inability to walk HP:0002540, Hypotonia HP:0001252, Ataxia HP:0001251 1 1 Irina Romanova
00419672 Pat1 PubMed: Syrbe 2015 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - epilepsy 17m-onset seizures, febrile seizures, hemiclonic seizures; myoclonic seizures, focal dyscognitive seizures, focal motor seizures, secondary generalized tonic-clonic seizures; 7y6m-seizure-free; EEG onset focal sharp waves; EEG multifocal sharp waves and sharp slow waves, accentuated over left frontocentral region with significant increase during sleep; mild-moderate ataxia, constant myoclonus; mild-moderate intellectual disability, delayed speech development; MRI brain normal; IGH deficiency, subclinical hypothyroidism 1 1 Johan den Dunnen
00419673 Pat2 PubMed: Syrbe 2015 2-generation family, 1 affected, unaffected non carrier parents M yes - - - - - - epilepsy 11m-onset seizures, myoclonic seizures; myoclonic seizures, myoclonic-atonic seizures; 4y-seizure-free; EEG onset focal sharp waves, spikes; EEG multifocal sharp waves, polyspikes, 6y-EEG normal; mild-moderate intellectual disability; MRI brain normal 1 1 Johan den Dunnen
00419674 Pat3 PubMed: Syrbe 2015 2-generation family, 1 affected, unaffected parents M - - - - - - - epilepsy intellectual disability with neonatal-onset focal epilepsy and cerebellar hypoplasia 1 1 Johan den Dunnen
00419675 Pat4 PubMed: Syrbe 2015 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - epilepsy 10m-onset seizures, focal dyscognitive seizures, febrile seizures; focal dyscognitive seizures, febrile seizures, focal motor seizures, possible extension spasms; 4y-seizure-free; EEG onset normal; EEG focal sharp waves; EEG 2y-sharp waves, spike-waves, polyspike-waves over both centro-temporal regions, independently or bilaterally synchronous (left more than right), increase during sleep; mild ataxia, myoclonus at rest in hand/fingers; learning disability, delayed speech development; MRI brain normal 1 1 Johan den Dunnen
00419676 Pat5 PubMed: Syrbe 2015 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - epilepsy 8m-onset seizures, febrile status epilepticus; febrile seizures, focal motor seizures, secondary generalized tonic-clonic seizures; 15y-seizure-free; EEG onset sharp waves, bilateral centro-temporo-frontal spikes; 4y-EEG multifocal epileptiform discharges activated by sleep; 17y-EEG normal; moderate intellectual disability, delayed speech development; MRI brain normal; severe scoliosis 1 1 Johan den Dunnen
00419677 Pat6 PubMed: Syrbe 2015 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - epilepsy 6m-onset seizures, generalized tonic-clonic seizures; myoclonic seizures, atypical absences; bimonthly generalized tonic-clonic seizures on polytherapy; 4y-EEG frequent generalized spike wave discharges in diffusely slow background; moderate ataxia, occasional myoclonus at rest; severe intellectual disability, no speech, requires help with all aspects of daily activities; MRI brain normal; facial dysmorphism, broad forehead, bulbous nasal tip, deep set eyes, synophris, full lips 1 1 Johan den Dunnen
00419678 Pat7 PubMed: Syrbe 2015 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - epilepsy 5m-onset seizures, febrile status epilepticus; generalized tonic-clonic seizures, absences; generalized tonic-clonic seizures once a year on lamotrigine; 6y-EEG generalized spike waves and polyspike-waves; moderate-severe ataxia, hyperreflexia; moderate intellectual disability; MRI brain normal 1 1 Johan den Dunnen
00419679 patient PubMed: Pena 2015 2-generation family, 1 affected, unaffected non carrier parents M - Brazil - - - - - epilepsy see paper; ..., encephalopathy, ataxia, myoclonic epilepsy 1 1 Johan den Dunnen
00427808 Pat187 PubMed: Zhou 2018 - F - China - - - - - epilepsy intellectual disability; absence seizure, generalized tonic-clonic, frequency 20/d; EEG generalized spike wave, focal spike wave; MRI brain normal; remitted to antiepileptic drugs 1 1 Johan den Dunnen
00438357 Pat75 PubMed: Chuan 2022 - F - China - - - - - epilepsy HP:0001250 seizures; HP:0000364 hearing abnormality; HP:0002500 abnormality of the cerebral white matter; HP:0002240 hepatomegaly 1 1 Johan den Dunnen
00438688 HSJ0693 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - 1 1 Johan den Dunnen
00440417 PED2646.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
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