All individuals with variants in gene KCNH5

25 entries on 1 page. Showing entries 1 - 25.
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00207956 - - - F - Germany - - - - - - HP:0002133 (Status epilepticus); HP:0001250 (Seizures); HP:0012638 (Abnormality of nervous system physiology) 1 1 Andreas Laner
00269489 patient;Pat10 PubMed: Minardi 2020, PubMed: Happ 2023 1 affected, parents not available M - Italy - - - - - EE see paper; ...; developmental and epileptic encephalopathy; <1y-tonic-clonic seizure; 8y-seizure offset; global developmental delay, no regression; mild intellectual disability, sentences, ambulatory, self-feeds; MRIbrain 52y/53y-multiple nonenhancing white matter abnormalities, arachnoid cyst, mineral deposits in the orbit; epileptic encephalopathy (HP:0200134) 1 1 Francesca Bisulli
00291067 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00427815 PatF;Pat2 PubMed: Veeramah 2013, PubMed: Happ 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - EE birth at term; seizures nonfebrile generalized tonic-clonic, generalized tonic-clonic or hemiclonic, prolonged and often in clusters with illness, relatively good control with valproate, occasional, brief clonic (facial), now partly controlled; EEG frequent multifocal spikes, almost continuous during sleep, even with good seiure control; epileptic encephalopathy, normal until 6m; mild motor delay, severe language delay; 3y-regression, reduced social interaction/attention; nonverbal with limited comprehension; autism; hypotonia 1 1 Johan den Dunnen
00428191 - Wiel 2023, Journal: Wiel 2023 - - - - - - - - - NDD - 1 1 Johan den Dunnen
00443772 Pat1 PubMed: Hu 2022 - M - China - - - - - DEE see paper; ..., 8m-seizures, non-febrile GTCS; EEG wide high 2–3 Hz periodic sharp wave complexes; craniocerebral MRI normal; ASD; language delay; bad behavior control 1 1 Johan den Dunnen
00443773 Pat2 PubMed: Hu 2022 2-generation family, 1 affected, unaffected non-carrier parents F - China - - - - - DEE see paper; ..., 6m-seizures, non-febrile eclampsia nutation; EEG high-amplitude slow waves and spikes or sharp waves occurring irregularly; craniocerebral MRI normal; psychomotor development delayed 1 1 Johan den Dunnen
00443774 Pat3 PubMed: Hu 2022 2-generation family, 1 affected, unaffected non-carrier parents M - China - - - - - DEE see paper; ..., 7m-seizures, non-febrile clonic seizures; EEG normal; craniocerebral MRI normal 1 1 Johan den Dunnen
00443775 Pat532;Pat15 PubMed: Imafidon 2021, PubMed: Happ 2023 2-generation family, 1 affected, unaffected non-carrier parents F - Netherlands - 00y11m - - - ? see paper; ..., 11m-deceased; developmental and epileptic encephalopathy, early infantile developmental and epileptic encephalopathy; 3m:-tonic-clonic seizure; epileptic spasm, myoclonic seizure; 1d-hypotonia, global developmental delay, 4m-regression; profound developmental delay; MRI brain 9d-normal, 3-delayed myelination, mild cerebral atrophy 1 1 Johan den Dunnen
00443776 Pat1 PubMed: Happ 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ID see paper; ...; developmental and epileptic encephalopathy; 3m-focal motor seizure, hemiclonic; focal to bilateral tonic-clonic seizure, status epilepticus, tonic-clonic seizure; 18m-global developmental delay, no regression; severe intellectual disability (single words, ambulatory, and assisted feeds; ADHD; MRI brain 3m-normal 1 1 Johan den Dunnen
00443777 Pat3 PubMed: Happ 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ID see paper; ...; developmental and epileptic encephalopathy, developmental and/or epileptic encephalopathy with spike-wave activation in sleep; 5m-focal impaired awareness seizure; focal to bilateral tonic-clonic seizure, focal motor seizure, hemiclonic; 3y-seizure offset; 2y6m-language delay, regression; mild-moderate intellectual disability (sentences and ambulatory); ADHD; MRI brain 6m/4y-normal 1 1 Johan den Dunnen
00443778 Pat4 PubMed: Happ 2023 1 affected, parents not available F - - - - - - - ID see paper; ...; epilepsy (unknown type); 6m-seizure (unknown type); generalised tonic-clonic seizure, absence seizure, focal aware motor seizure; no regression; learning difficulties at school; sentences, ambulatory, and self-feeds; MRI brain 55y-normal 1 1 Johan den Dunnen
00443779 Pat5 PubMed: Happ 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ID see paper; ...; focal developmental and epileptic encephalopathy; 6m-febrile seizure; focal motor seizure, focal to bilateral tonic-clonic seizure; 16m-language delay, no regression; moderate intellectual disability (2-word sentences, ambulatory, and self-feeds); autistic trait; 1 1 Johan den Dunnen
00443780 Pat6 PubMed: Happ 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ID see paper; ...; focal developmental and epileptic encephalopathy; 7m-focal impaired awareness seizure; focal to bilateral tonic-clonic seizure, focal motor seizure, hemiclonic; 3y6m-language delay. behavior delay, no regression; mild intellectual disability (sentences, ambulatory, and self-feeds); behavioral difficulties; MRI brain 1y/3y/5y-normal 1 1 Johan den Dunnen
00443781 Pat7 PubMed: Happ 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ID see paper; ...; developmental and epileptic encephalopathy; 10m-focal impaired awareness seizure; myoclonic-atonic seizure, myoclonic seizure, tonic-clonic seizure; 6y-seizure offset; 15m-language delay, no regression; moderate intellectual disability, sentences, ambulatory, self-feeds; MRI brain 10m/4y-normal 1 1 Johan den Dunnen
00443782 Pat8 PubMed: Happ 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ID see paper; ...; focal developmental and epileptic encephalopathy; 2m-focal motor seizure; focal to bilateral tonic-clonic seizure, focal impaired awareness seizure; 15m-language delay, no regression; severe intellectual disability; 2-word sentences, ambulatory, assisted feeds; autism spectrum disorder; MRI brain 11m/18m-normal 1 1 Johan den Dunnen
00443783 Pat9 PubMed: Happ 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ID see paper; ...; combined focal and generalized epilepsy; 7m=generalised tonic-clonic seizure; focal to bilateral tonic-clonic seizure; 14m-seizure offset; 14m-language delay, no regression; language delay (single words), ambulatory, self-feeds; MRI brain 14m-normal 1 1 Johan den Dunnen
00443784 Pat11 PubMed: Happ 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ID see paper; ...; focal epilepsy; 8m-focal impaired awareness seizure; focal to bilateral tonic-clonic seizure; 12m-seizure offset; no regression; behavioral difficulties, sentences, ambulatory, self-feeds; MRI brain 13m-normal 1 1 Johan den Dunnen
00443785 Pat12 PubMed: Happ 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ID see paper; ...; epilepsy (unknown type); 9m-tonic-clonic seizure; 5y-seizure offset; 18m-language dealy, no regression; no intellectual disability, sentences, ambulatory, self-feeds; MRI brain 15m/7y-normal 1 1 Johan den Dunnen
00443786 Pat13 PubMed: Happ 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ID see paper; ...; focal epilepsy; 10m-focal impaired awareness seizure; 1y-seizure offset; focal to bilateral tonic-clonic seizure; 18m-languagelay, gross motor delay, no regression; no intellectual disability; sentences, ambulatory, self-feeds; behavioral difficulties; MRI brain 4y/9y: frontal atrophy (not progressive), arachnoid cyst, Chiari I malformation 1 1 Johan den Dunnen
00443787 Pat14 PubMed: Happ 2023 2-generation family, affected mother/daughter, unaffected non-carrier parents F - - - - - - - ID see paper; ...; generalized epilepsy; 2m-myoclonic seizure; 3m-seizure offset; 4m-hypotonia, no regression; behavioral difficulties, single words, walks with support; MRI brain 4m-normal 1 1 Johan den Dunnen
00443788 Pat16 PubMed: Happ 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - 9y - - - ID see paper; ...; 9y-deceased (pneumonia); developmental and epileptic encephalopathy, early infantile developmental and epileptic encephalopathy; 1m-focal tonic seizure; epileptic spasm, tonic-clonic seizure, myoclonic seizure; 1d-hypotonia, global developmental delay, no regression; profound intellectual disability: no speech, nonambulatory; G-tube; MRI brain 3w-increased signal posterior fossa, CT scan 2y-cerebral atrophy 1 1 Johan den Dunnen
00443789 Pat17 PubMed: Happ 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ID see paper; ...; evelopmental encephalopathy, focal epilepsy; 1y-tonic-clonic seizure; focal impaired awareness seizure; 5y-seizure offset; 9m-global developmental delay, no regression; moderate intellectual disability (sentences), ambulatory, self-feeds; MRI brain 1y/3y-normal 1 1 Johan den Dunnen
00443790 Pat18 PubMed: Happ 2023 2-generation family, 2 affected brothers, unaffected non-carrier parents M - - - - - - - ID see paper; ..., 2y-mild fine motordelay, language delay; learning difficulties, autism spectrum disorder, oppositional defiant disorder,attention-deficit-hyperactivity disorder; MRI brain Chiari I malformation, spinal cord syrinx 2 1 Johan den Dunnen
00443791 Pat19 PubMed: Happ 2023 - M - - - - - - - ID see paper; ..., 18m-global developmental delay; 10y-limited language, autism spectrum disorder; EEG 9m-normal 1 1 Johan den Dunnen
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