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8,121 Possible Causes for Mutation in the FGFR2 Gene, Overfolded Superior Helix, Seizure

  • FGFR2-Related Bent Bone Dysplasia

    This condition is associated with mutations in the FGFR2 gene. [2] Last updated: 6/26/2014[rarediseases.info.nih.gov] Iowa type Hereditary cerebral hemorrhage with amyloidosis, Italian type Hereditary cerebral hemorrhage with amyloidosis, Piedmont type Aldosterone-producing adenoma with seizures[csbg.cnb.csic.es] This condition is associated with mutations in the FGFR2 gene.[malacards.org]

  • Glioblastoma Multiforme

    Specifically, we examined 174 exons in which mutations have been previously described for the following genes: AKT2, ATM, ATR, BRAF, BRD2, DDR1, DYRK2, EGFR, EPHA3, EPHA5,[doi.org] A week later, she returned to her regular diet, but 12 days after surgery she started the same pattern seizures.[ncbi.nlm.nih.gov] We report a case of an unusual hemispheric DNET in a young child presenting with new-onset focal seizures.[ncbi.nlm.nih.gov]

    Missing: Overfolded Superior Helix
  • Pallister W Syndrome

    superior helix and small anthelix, sometimes cupped, with preauricular tags (fig 1 ).[jmg.bmj.com] My nephew still has giggle fits that are actually seizures.[wintermutedsun.wordpress.com] Seizures [ edit ] As noted above, the hypothalamic hamartoma can cause seizures. The most common types of seizures that occur are known as gelastic epilepsy.[en.wikipedia.org]

    Missing: Mutation in the FGFR2 Gene
  • Lafora Disease

    gene Craniosynostosis Mutation screening in exons 8 and 10 of FGFR2 gene Craniosynostosis NGS of 3 genes: EFNB1, MSX2, TWIST1 Craniosynostosis syndromes: Baller-Gerold syndrome[pentacorelab.hu] […] the seizure latency and duration.[doi.org] The authors present the case of a patient with Lafora disease proven by skin biopsy, who suffered two occipital seizures recorded on EEG and provoked by intermittent photic[ncbi.nlm.nih.gov]

    Missing: Overfolded Superior Helix
  • Crouzon Syndrome

    Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been identified in Crouzon syndrome, an autosomal dominant condition causing premature fusion of the[ncbi.nlm.nih.gov] Occasionally, patients may experience frequent headaches or seizures.[chla.org] Those with Crouzon syndrome are at risk for headaches and seizures. The nose can be curved and the upper jaw may be small.[ucdmc.ucdavis.edu]

    Missing: Overfolded Superior Helix
  • Propionic Acidemia

    There was mild plagiocephaly and overfolding of the superior helix of each ear. The lower lip had loss of tissue in 2 lateral clefts with bulbous tissue in the center.[jamanetwork.com] All nine patients with pathological EEG discharges developed seizures compatible with the definition of symptomatic epilepsy.[ncbi.nlm.nih.gov] […] acidemia (PA), the most common form, is characterized by poor feeding, vomiting, and somnolence in the first days of life in a previously healthy infant, followed by lethargy, seizures[ncbi.nlm.nih.gov]

    Missing: Mutation in the FGFR2 Gene
  • Ganglioglioma

    , one harbored an in-frame FGFR1 - TACC1 gene fusion, one harbored a mutation affecting the exon 17 splice acceptor sequence of the FGFR2 gene, and two harbored in-frame[actaneurocomms.biomedcentral.com] Ganglioglioma is a rare tumor of the central nervous system that typically presents with seizures in children and young adults.[ncbi.nlm.nih.gov] Forty-three patients had complex partial seizures, 12 patients had simple partial seizures, and secondary generalization occurred in 18 patients.[ncbi.nlm.nih.gov]

    Missing: Overfolded Superior Helix
  • Crouzon Syndrome-Acanthosis Nigricans Syndrome

    […] in the FGFR2 gene (176943).[malacards.org] Patients with SADDAN syndrome have extreme short stature, tibial bowing, seizures and hydrocephalus. 1 In addition, there are two craniosynostosis syndromes associated with[nature.com] Definition Classic Crouzon disease which is caused by mutations in the FGFR2 gene is characterized by craniosynostosis (premature fusion of the skull sutures), and facial[uniprot.org]

    Missing: Overfolded Superior Helix
  • Kaufman Oculocerebrofacial Syndrome

    Symptoms INHERITANCE: Autosomal dominant HEAD AND NECK: [Head]; Open metopic suture; [Face]; Midface hypoplasia; Micrognathia; [Ears]; Low-set ears; Overfolded superior helix[findzebra.com] KCNQ2 Benign familial neonatal seizures, Epileptic encephalopathy, early infantile, Myokymia KCNQ3 Seizures, benign neonatal KCNT1 Epilepsy, nocturnal frontal lobe LGI1 Epilepsy[genda.com.ar] […] two gene, FGFR2.The orbits are shallow with ensuing exorbitism, that is because of the anterior positioning of the larger wing of the sphenoid bone.[omicsonline.org]

  • Baller-Gerold Syndrome

    superior helix and small anthelix, sometimes cupped, with preauricular tags (fig 1 ).[jmg.bmj.com] This syndrome results from mutations in the FGFR2 gene (Przylepa et al. 1996).[rrnursingschool.biz] She was started on carbamazepine once again and was seizure-free since then.[annalsofian.org]

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