| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (48.8%) |
24214579 |
Hemiconvulsion-hemiplegia-epilepsy syndrome with 1q44 microdeletion: causal or chance association. Gupta R, Agarwal M, Boqqula VR, Phadke RV, Phadke SR. Am J Med Genet A. 2014;164A(1):186-9. |
| Microcephaly Preaxial polydactyly | ||
| COX20 HNRNPU SHH | ||
| Brain Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 1 Congenital Foot Deformity Epilepsy Facies Females Hemiplegia Homo sapiens Magnetic Resonance Imaging Phenotype Seizures Syndrome | ||
| 2 (45.7%) |
27199890 (4854866) |
Stroke-Like Presentation Following Febrile Seizure in a Patient with 1q43q44 Deletion Syndrome. Robinson JE, Wolfe SM, Kaiser-Rogers K, Greenwood RS. Front Neurol. 2016;7:67. |
| Edema Hemiatrophy | ||
| 2 (45.7%) |
26179932 |
An autopsy case of hemiconvulsion-hemiplegia-epilepsy syndrome manifesting as cerebral hemiatrophy in an elderly man. Iwase T, Yoshida M, Mizuno T, Sato S, Nokura K. Neuropathology. 2015;35(6):592-8. |
| Cerebellar atrophy Hemiatrophy | ||
| Autopsy Brain Epilepsy Hemiplegia Homo sapiens Male Seizures Syndrome | ||
| 2 (45.7%) |
9224914 |
Hemiconvulsion-hemiplegia-epilepsy syndrome. A clinical, electroencephalographic and neuroradiological study. Salih MA, Kabiraj M, Al-Jarallah AS, El Desouki M, Othman S, Palkar VA. Childs Nerv Syst. 1997;13(5):257-63. |
| Seizure Hemiatrophy | ||
| Brain Mapping Child Child, Preschool Dominance, Cerebral Electroencephalography Females Hemiplegia Homo sapiens Magnetic Resonance Imaging Male Neurologic Examination Regional Blood Flow Seizures Tomography, Emission-Computed, Single-Photon Tonic-Clonic Epilepsy | ||
| 5 (39.0%) |
16948946 |
Hemiconvulsion-hemiplegia-epilepsy syndrome as a presenting feature of L-2-hydroxyglutaric aciduria. Lee C, Born M, Salomons GS, Jakobs C, Woelfle J. J Child Neurol. 2006;21(6):538-40. |
| Macrocephaly | ||
| IGKV3-15 L2HGDH | ||
| c|SUB|A|241|G p|SUB|K|81|E | ||
| Epilepsy Females Glutarates Hemiplegia Homo sapiens Inborn Errors of Metabolism Infant Syndrome | ||
| 6 (4.0%) |
30455564 |
The Hemiconvulsions-Hemiplegia-Epilepsy (HHE) syndrome: a transcranial magnetic stimulation-EEG study. Kimiskidis VK, Sotirakoglou K, Kazis DA, Papaliagkas V, Chatzikyriakou E. Hippokratia. 2017;21(2):101. |
| Seizure | ||
| 6 (4.0%) |
30353904 |
Hemiconvulsion-Hemiplegia-Epilepsy Syndrome in a Girl Presented with Complex Partial Seizures. Joshi A , Shrestha PS , Dangol S , Shrestha NC , Poudyal P , Shrestha A . Kathmandu Univ Med J (KUMJ). 2017;15(59):256-260. |
| Edema | ||
| Brain Edema Cerebrum Child, Preschool Epilepsy Epileptic Syndromes Females Hemiplegia Homo sapiens Magnetic Resonance Imaging Seizures Syndrome | ||
| 6 (4.0%) |
29858110 |
An episode of acute encephalopathy with biphasic seizures and late reduced diffusion followed by hemiplegia and intractable epilepsy observed in a patient with a novel frameshift mutation in HNRNPU. Shimada S, Oguni H, Otani Y, Nishikawa A, Ito S, Eto K, Nakazawa T, Yamamoto-Shimojima K, Takanashi JI, Nagata S, Yamamoto T. Brain Dev. 2018;40(9):813-818. |
| Intellectual disability | ||
| HNRNPU | ||
| Brain Child, Preschool Developmental Disabilities Drug Resistant Epilepsy Hemiplegia Heterogeneous-Nuclear Ribonucleoprotein U Homo sapiens Male Phenotype Seizures | ||
| 6 (4.0%) |
27176609 |
Survival following decompressive hemicraniectomy for hemiconvulsion-hemiplegia-epilepsy syndrome: case report. Beier AD, Jannotta GE, Sandler ED, Abram HS, Sheth RD, Aldana PR. J Neurosurg Pediatr. 2016;18(3):344-9. |
| Hypertension | ||
| Brain Child, Preschool Decompression, Surgical Epilepsy Females Hemiplegia Homo sapiens Syndrome | ||
| 6 (4.0%) |
25534218 |
[Hemiconvulsion-hemiplegia-epilepsy syndrome in a girl with adrenogenital syndrome]. Vestergaard M, Uldall P. Ugeskr Laeger. 2014;176(51):. |
| Fever | ||
| Adrenogenital Syndrome Child, Preschool Epilepsy Females Fever Hemiplegia Homo sapiens Magnetic Resonance Imaging Status Epilepticus Syndrome |
Total: 0
| HPO ID | Term | Frequency |
|---|
Total: 16
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002301 | Hemiplegia | 10 |
| HP:0001250 | Seizures | 5 |
| HP:0000969 | Edema | 3 |
| HP:0002133 | Status epilepticus | 3 |
| HP:0001945 | Fever | 2 |
| HP:0100556 | Hemiatrophy | 2 |
| HP:0000256 | Macrocephaly | 1 |
| HP:0001263 | Global developmental delay | 1 |
| HP:0001265 | Hyporeflexia | 1 |
| HP:0002076 | Migraine | 1 |
| HP:0002373 | Febrile seizures | 1 |
| HP:0002381 | Aphasia | 1 |
| HP:0002878 | Respiratory failure | 1 |
| HP:0032046 | Focal cortical dysplasia | 1 |
| HP:0040292 | Left hemiplegia | 1 |
| HP:0100258 | Preaxial polydactyly | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|