All individuals with variants in gene KCNB2

12 entries on 1 page. Showing entries 1 - 12.
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00413831 patient PubMed: Zie 2022 - M no China - - - - - hCK asymptomatic hyper-CKemia (2,897-4,717 IU/L) ; no delayed motor milestones, no exercise-induced muscle pain, no cramps; mild calf hypertrophy, no muscle weakness; MRI muscle no muscle fatty infiltration pelvis/thigh muscles; muscle biopsy myopathic changes, clusters of necrotic and regenerating muscle fibers, few hypertrophic, atrophic, and hypercontracted muscle fibers, small number internal nuclei 1 1 Zhiying Xie
00449658 Pat1 PubMed: Bhat 2024, Journal: Bhat 2024 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., MRI brain anomalies; cardiac anomalies; urogenital anomalies; ophthalmological anomalies; developmental delay; intellectual disability; no autistic features; epilepsy (effectively treated with Levetiracetam); facial dysmorphisms; no hand dysmorphisms; no synophrys; hypotonia; no attention-deficit/hyperactivity disorder 1 1 Johan den Dunnen
00449659 Pat2 PubMed: Bhat 2024, Journal: Bhat 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., cardiac anomalies; urogenital anomalies; ophthalmological anomalies; developmental delay; too young to make an autistic spectrum disorder diagnosis; no epilepsy; facial dysmorphisms; hand dysmorphisms; synophrys; hypotonia with ataxic cerebral palsy; no attention-deficit/hyperactivity disorder 1 1 Johan den Dunnen
00449660 Pat3 PubMed: Bhat 2024, Journal: Bhat 2024 - F - - - - - - - NDD see paper; ..., MRI brain no anomalies; no cardiac anomalies; no urogenital anomalies; no ophthalmological anomalies; developmental delay; intellectual disability; no autistic features; no epilepsy; facial dysmorphisms; hand dysmorphisms; no synophrys; no hypotonia; no attention-deficit/hyperactivity disorder 1 1 Johan den Dunnen
00449661 Pat4 PubMed: Bhat 2024, Journal: Bhat 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., no cardiac anomalies; no urogenital anomalies; ophthalmological anomalies; developmental delay; intellectual disability; mild autistic features; no epilepsy; no facial dysmorphisms; no hand dysmorphisms; synophrys; no hypotonia 1 1 Johan den Dunnen
00449662 Pat5 PubMed: Bhat 2024, Journal: Bhat 2024 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., MRI brain anomalies; no urogenital anomalies; ophthalmological anomalies; severe developmental delay; intellectual disability; too young to make an autistic spectrum disorder diagnosis; no epilepsy; facial dysmorphisms; hand dysmorphisms; no synophrys; no hypotonia; no attention-deficit/hyperactivity disorder 1 1 Johan den Dunnen
00449663 Pat6 PubMed: Bhat 2024, Journal: Bhat 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ...no urogenital anomalies; developmental delay; intellectual disability; mild autistic features; no epilepsy; facial dysmorphisms; hand dysmorphisms; no synophrys; no hypotonia; attention-deficit/hyperactivity disorder 1 1 Johan den Dunnen
00449664 Pat7 PubMed: Bhat 2024, Journal: Bhat 2024 family, patient and asymptomaticheterozygous carrier father M - - - - - - - NDD see paper; ..., MRI brain no anomalies; no cardiac anomalies; no urogenital anomalies; no ophthalmological anomalies; developmental delay; intellectual disability; mild autistic features; epilepsy. multiple anti-seizure medication; no facial dysmorphisms; no hand dysmorphisms; no synophrys; no hypotonia; no attention-deficit/hyperactivity disorder 1 1 Johan den Dunnen
00449665 - PubMed: Bhat 2024, Journal: Bhat 2024 Epi25 exome study variant server - - - - - - - - ? - 1 1 Johan den Dunnen
00449666 - PubMed: Bhat 2024, Journal: Bhat 2024 Epi25 exome study variant server - - - - - - - - ? - 1 1 Johan den Dunnen
00449667 - PubMed: Bhat 2024, Journal: Bhat 2024 Epi25 exome study variant server - - - - - - - - ? - 1 1 Johan den Dunnen
00449668 - PubMed: Leu 2015, PubMed: Bhat 2024, Journal: Bhat 2024 - - - - - - - - - ? - 1 1 Johan den Dunnen
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