Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell +16 more
wiley +1 more source
Long-term seizure outcome after epilepsy surgery in patients with mild malformation of cortical development and focal cortical dysplasia. [PDF]
Epilepsia Open, 2019 Veersema TJ +9 more
europepmc +1 more source
Clinical characteristics and post-operative outcomes in children with malformation of cortical development related drug-resistant epilepsy: 428 cases in one pediatric epilepsy center. [PDF]
CNS Neurosci TherYu H +9 more
europepmc +1 more source
, 2001 Purpose: To evaluate the clinical and electrophysiological characteristics of malformation of cortical development (MCD) with epilepsy. Method: We studied clinical and electroencephalographic (EEG) features of 54 childhood epilepsy patients with MCD ...
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Biallelic PAX6 Variants in an Adult With Severe Microphthalmia and Preserved Intellectual Function
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT PAX6 encodes a dosage‐sensitive transcription factor that is essential for eye development. Heterozygous PAX6 disease is well characterized, but biallelic disease is extremely rare and has been associated with anophthalmia, severe brain malformations, and perinatal lethality.
Karl De Geer +4 more
wiley +1 more source
Recurrent Neurodevelopmental Disorder Associated With a Dominant‐Negative TOP2B H63Y Variant
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT We describe a 7 year‐old boy with severe neurodevelopmental disorder, medically‐refractory epileptic encephalopathy, hyperkinetic movement disorder, hypotonia, cerebral and cerebellar atrophy and hypomyelination who was found to have a heterozygous de novo TOP2B NM_001330700.2:c.187C>T, p.(His63Tyr) variant.
Zong Yi Ha +6 more
wiley +1 more source
Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa +3 more
wiley +1 more source
A novel de novo mutation in DYNC1H1 gene underlying malformation of cortical development and cataract. [PDF]
Meta Gene, 2016 Hertecant J +5 more
europepmc +1 more source
Special Issue Editorial: Advanced Science for Tissue‐Interfaced Organic Bioelectronics
Advanced Science, EarlyView.
Tae‐il Kim +2 more
wiley +1 more source
Prenatal Presentation of RMRP‐Related Skeletal Dysplasia: Clinical and Genomic Expansion
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT The RNA subunit of the mitochondrial RNA processing endoribonuclease complex is encoded by RMRP. Biallelic variants in RMRP are known for anauxetic dysplasia 1 (AD), cartilage‐hair hypoplasia (CHH), and metaphyseal dysplasia without hypotrichosis.
Radhakrishnan Periyasamy +21 more
wiley +1 more source