PVNH7 is an autosomal dominant disease characterized by delayed psychomotor development, intellectual disability, and seizures in some patients. Additional features include cleft palate and toe syndactyly. [malacards.org]

In addition, PVNH may be a recurrent finding in several genetic syndromes, often associated with additional developmental brain malformations and intellectual disability. [epilepsygenetics.net]

Previous clinical reports of patients with PH have generally focused on other neurological consequences, such as seizures, dyslexia, and intellectual disability. [neuro.psychiatryonline.org]

Additionally, and depending on the extent, children may demonstrate developmental delay or intellectual disability 3. [radiopaedia.org]

Patients with band heterotopia may present at any age with variable developmental delay and seizure disorder, which vary widely in severity. [en.wikipedia.org]

Individuals with periventricular heterotopia in whom ARFGEF2 gene mutations have been identified have a severe form of the disorder, including microcephaly, severe developmental delay, and seizures beginning in infancy. [ghr.nlm.nih.gov]

Additionally, and depending on the extent, children may demonstrate developmental delay or intellectual disability 3. [radiopaedia.org]

• Developmental delay and cognitive issues are more common in the pediatric population. • Surgery outcome may be good, with resections limited to the periventricular nodules, cortex, or both after functional studies and proper invasive EEG assessment [medlink.com]

Painful tonic spasms and brainstem involvement in a patient with neuromyelitis optica spectrum disorders. Neurologia I Neurochirurgia Polska 2016; 50 (1): 55-58. 14. Ungureanu A, Rus LL, Gligor F, Lazaroae A, Prodan L, Roman-Filip C. [revmedchir.ro]

15 year-old girl with paresthesia, headache, and abdominal pain. Jurnalul Pediatrului 2007; 10:32–35Google Scholar 18 Yankovsky AE, Veilleux M, Dubeau F, et al.: Post-ictal rage and aggression: a video-EEG study. [neuro.psychiatryonline.org]

COPYRIGHT TRANSFER FORM FOR REVISTA MEDICO-CHIRURGICALĂ A SOCIETĂȚII DE MEDICI ȘI NATURALIȘTI DIN IAȘI / THE MEDICAL-SURGICAL JOURNAL OF THE SOCIETY OF PHYSICIANS AND NATURALISTS FROM IASI We, the undersigned authors of the manuscript entitled _______ [revmedchir.ro]

The questionnaires were processed by the patients themselves together with their physicians and/or caregivers. In 20 patients original MR images were available for assessment. [ojrd.biomedcentral.com]

It has been demonstrating that approximately 80% of familial cases of PNH are related to FLNA mutation, gene located on the long arm of the X-chromosome inherited in a dominant fashion. [revmedchir.ro]

Abstract Filamin A is an actin-binding protein and, in humans, is encoded by FLNA gene in the long arm of X chromosome. Filamin A plays a role in the formation of cytoskeleton by crosslinking actin filaments in cytoplasm. [koreamed.org]

Less commonly, individuals with periventricular heterotopia may have other features including more severe brain malformations, small head size (microcephaly), developmental delays, recurrent infections, blood vessel abnormalities, stomach problems, or [ghr.nlm.nih.gov]

At the age of 15 she was admitted in the department of Psychiatry for depression and behavioral disorder (irritability and aggressive behavior) and she was treated with selective serotonin reuptake inhibitors (this happens frequently showed a small study [revmedchir.ro]

At the age of 15 she was admitted in the department of Psychiatry for depression and behavioral disorder (irritability and aggressive behavior) and she was treated with selective serotonin reuptake inhibitors (this happens frequently showed a small study [revmedchir.ro]

Functional interactions in brain networks underlying epileptic seizures in bilateral diffuse periventricular heterotopia, Clinical Neurophysiology 2008; 119: 212-223. 10. Popescu CE, Mai R, Sara R. [revmedchir.ro]

Medical history revealed complex partial seizures that first began at 1.5 years of age, which was treated with carbamazepine for 2.5 years. As seizures stopped, the drug was ceased gradually, resulting in no more seizures for 3 years. [pediatricneurosciences.com]

Furthermore, there were no other clinical seizure phenomena, such as alteration of consciousness, associated with her myoclonus. [jmedscindmc.com]

Their epileptic histories, the age and modality of seizure onset, and the semiology of the seizures were carefully reviewed. [onlinelibrary.wiley.com]

Keywords: neuronal migration, neuronal heterotopias, complex partial seizures, epilepsy. [rjlm.ro]

At the age of 15 she was admitted in the department of Psychiatry for depression and behavioral disorder (irritability and aggressive behavior) and she was treated with selective serotonin reuptake inhibitors (this happens frequently showed a small study [revmedchir.ro]

Significant behavior problems began in adolescence; these included mood swings, anxiety, impulsiveness, irritability, and confrontational behavior. She was diagnosed with mild ID (IQ 61) and an ASD. [neuro.psychiatryonline.org]

This abnormal development of connectivity may affect neuronal maturation and consequently the balance of excitation and inhibition in neuronal circuits, leading to their epileptogenic potential. [ncbi.nlm.nih.gov]

(1) cortical myoclonus shows a time-locked premyoclonus EEG discharge reflecting apical dendrite excitation of pyramidal neurons; (2) myoclonus event latency is consistent with pyramidal tract conduction. [jmedscindmc.com]

There was neither cognitive decline nor any progressive ataxia or cerebellar signs. No evidence of neurocutaneous markers was present. Investigations revealed normal hemogram and serum biochemistry. [jmedscindmc.com]

The convulsions were preceded by aura, described by the patient as heaviness in head, and were generalized tonic–clonic in nature, each episode lasting for 1–2 min followed by 15–20 min of postictal confusion. [jmedscindmc.com]

Electroencephalogram (EEG) was suggestive of generalized epileptiform discharges. Further electrophysiological testing, like EEG-electromyogram polygraphy, could not be done due to nonavailability. [jmedscindmc.com]

Third, no clinical myoclonus was noted during the EEG recording; the interictal EEG recorded generalized spike and slow-wave discharges, the pattern was not suggestive of myoclonic seizures. [jmedscindmc.com]

Third, no clinical myoclonus was noted during the EEG recording; the interictal EEG recorded generalized spike and slow-wave discharges, the pattern was not suggestive of myoclonic seizures. [jmedscindmc.com]