Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Skeletal anomaly and opisthotonus in early-onset epileptic encephalopathy with KCNQ2 abnormality.

Brain & development - 1 Apr 2023

Kawano Osamu, Saito Takashi, Sumitomo Noriko, Takeshita Eri, Shimizu-Motohashi Yuko, Nakagawa Eiji, Mizuma Kanako, Tanifuji Sachiko, Itai Toshiyuki, Miyatake Satoko, Matsumoto Naomichi, Takahashi Yuji, Mizusawa Hidehiro, Sasaki Masayuki

Abstract excerpt

BACKGROUND: Heterozygous KCNQ2 variants cause benign familial neonatal seizures and early-onset epileptic encephalopathy in an autosomal dominant manner; the latter is called KCNQ2 encephalopathy. No case of KCNQ2 encephalopathy with arthrogryposis multiplex congenita has been reported. Furthermore, early-onset scoliosis and opisthotonus have not been documented as characteristics of KCNQ2 encephalopathy. CASE...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Arthrogryposis
Share to Brain Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dystonia

Share to Infant

Share to Infant, Newborn

Share to KCNQ2 Potassium Channel

Share to Mutation

Share to Scoliosis

Source

Identifiers

PMID: 36631315
DOI: 10.1016/j.braindev.2022.12.004

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Skeletal anomaly and opisthotonus in early-onset epileptic encephalopathy with KCNQ2 abnormality.PMID 36631315Read ↗

Adult phenotype of KCNQ2 encephalopathy.Semantic proximity Read ↗

A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation.Semantic proximity Read ↗

A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy.Semantic proximity Read ↗

KCNQ2 Epileptic Encephalopathy in Early Infancy.Semantic proximity Read ↗

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.Semantic proximity Read ↗

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.Semantic proximity Read ↗

KCNQ2 encephalopathySemantic proximity Read ↗

Neurodevelopmental features in KCNQ2 developmental and epileptic encephalopathy may have limited associations with KV7.2 dysfunction.Semantic proximity Read ↗

Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.Semantic proximity Read ↗

Neuropathology findings in KCNQ2 neonatal epileptic encephalopathy.Semantic proximity Read ↗

A novel de novo heterozygous variant of the KCNQ2 gene: Contribution to early‑onset epileptic encephalopathy in a female infant.Semantic proximity Read ↗

Biallelic variants of KCNQ2 in early infantile developmental and epileptic encephalopathy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.