This patient adds unique clinical presentations of neurological and nephroureteral abnormalities to the features of 9q33q34 microdeletion. [ncbi.nlm.nih.gov]

No single cause has been identified, although in many cases structural brain damage is present. [en.wikipedia.org]

AB - Dravet Syndrome (SMEI) is an idiopathic generalized epileptic syndrome presenting with heterogeneous phenotypes. [moh-it.pure.elsevier.com]

NCI National Institute of Child Health and Human Development A neurological disorder characterized by recurring seizures presenting within the first three months of life, progressive cerebral dysfunction, and an EEG pattern of periods of low electrical [doctor.am]

• Developmental Disorder

  disorder of mental health 1688 specific developmental disorder 1277 intellectual disability 1104 syndromic intellectual disability 210 Mental Retardation, X-Linked 201 Rett syndrome 17 Early Infantile Epileptic Encephalopathy 2 7 [rgd.mcw.edu]

  […] doi: 10.1097/WCO.0b013e32835f19da DEVELOPMENTAL DISORDERS: Edited by Daniel Geschwind Abstract Author Information Authors Article Metrics Metrics Genetic epilepsies in childhood are a complex group of disorders, with heterogeneous etiologies and clinicopathologic [journals.lww.com]

  MCAHS2 is a rare and devastating disorder in neonate. Furthermore, exact diagnosis of MCAHS2 is difficult, hindering early detection and treatment, which can lead to early lethality and developmental disorders. [synapse.koreamed.org]

• Small Hand

  This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet. [mendelian.co]

  Clinical Synopsis: INHERITANCE: X-linked dominant HEAD AND NECK: [Head]; Microcephaly, progressive RESPIRATORY: Breath-holding episodes; Hyperventilation SKELETAL: [Spine]; Scoliosis; [Hands]; Small hands; [Feet]; Small feet MUSCLE, SOFT TISSUE: Hypotonia [genome.jp]

• Convulsions

  Familial Infantile, With Paroxysmal Choreoathetosis ICCA Syndrome Paroxysmal Kinesigenic Dyskinesia With Infantile Convulsions Infantile Convulsions And Paroxysmal Choreoathetosis, Familial ICCA PKD/IC 602066 Genetic Test Registry Corpus Callosum, Agenesis [ukgtn.nhs.uk]

  From personal observations it appears that BIME and SIME, while justifiably constituting recognizable entities, may best be combined into a single syndrome of "infantile myoclonic epilepsy following febrile convulsions," with variable clinical outcomes [ncbi.nlm.nih.gov]

  From personal observations it appears that BIME and SIME, while justifiably constituting recognizable entities, may best be combined into a single syndrome of “infantile myoclonic epilepsy following febrile convulsions,” with variable clinical outcomes [journals.lww.com]

  A new familial form of convulsive disorder and mental retardation limited to females. J. Pediatr. 79, 726–732 (1971). 11 Fabisiak, K. & Erickson, R.P. [dx.doi.org]

• Global Developmental Delay

  Diseases related with Global developmental delay and Short palm In the following list you will find some of the most common rare diseases related to Global developmental delay and Short palm that can help you solving undiagnosed cases. [mendelian.co]

  BACKGROUND: Early infantile epileptic encephalopathies usually manifest as severely impaired cognitive and motor development and often result in a devastating permanent global developmental delay and intellectual disability. [ncbi.nlm.nih.gov]

  developmental delay resulting in mental retardation and poor motor control. [rgd.mcw.edu]

  developmental delay and intellectual disability. [jmg.bmj.com]

  The Simons Variation in Individuals Project is an online community that supports families with rare genetic changes (also called "genomic variants") associated with features of autism and developmental delay. [rarediseases.info.nih.gov]

• Stroke

  Institutes of Health Bethesda, MD 20892 NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or [web.archive.org]

  Loss of brain cells, which happens if you suffer a stroke, can affect your ability to think clearly. Brain tumors can also press on nerves and affect brain function. Some brain diseases are genetic. [icdlist.com]

  He previously served as chief of the Epilepsy Research Section at the National Institute of Neurological Disorders and Stroke. His research is on the cellular mechanisms of action of antiepileptic drugs and new epilepsy treatment approaches. [books.google.es]

  National Institute for Neurological Disorders and Stroke Ohtahara Syndrome is of heterogeneous etiology, meaning many different causes, most remain unknown. [sites.google.com]

  The National Institute of Neurological Disorders and Stroke (NINDS) (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic. [rarediseases.info.nih.gov]

• Atonic Seizures

  Wide intermamillary distance Scrotal hypoplasia Hydrocele testis Overfolded helix Broad neck Ureterocele Hernia Areflexia Umbilical hernia Abnormality of the cerebral white matter Macroglossia Broad thumb Horizontal nystagmus CNS hypomyelination Mutism Atonic [mendelian.co]

  Carvill GL, McMahon JM, Schneider A, Zemel M, Myers CT, et al: Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic-atonic seizures. Am J Hum Genet 96:808-815 (2015). [karger.com]

  Multiple seizure types occurred including tonic-clonic (26), tonic (4), partial (11), absence (5), atonic (3) and myoclonic (4). Seizures ceased at mean 12 years. [dx.doi.org]

• Infantile-Onset Seizures

  Conclusions This de novo PCDH19 mutation in a sporadic female highlights that mutational analysis should be considered in isolated instances of girls with infantile onset seizures and developmental delay, in addition to those with the characteristic family [dx.doi.org]

The diagnostic workup of EIEEs remains challenging because of frequent difficulties in defining etiologies. [dnatesting.uchicago.edu]

Additional workup of exome sequencing analysis revealed a hemizygous nonsense mutation in PIGA (c.1234C>T, p.Arg412 * ). The patient is currently undergoing hospitalization for treatment of respiratory failure and recurrent seizures. [synapse.koreamed.org]

Diagnostic workup In early myoclonic encephalopathy, EEG is characterized by a "burst-suppression" pattern with bursts of spikes, sharp waves, and slow waves, which are irregularly intermingled and separated by periods of electrical silence. [intechopen.com]

• Hypsarrhythmia

  […] from hypsarrhythmia to diffuse slow spike-waves at around age 1. [ncbi.nlm.nih.gov]

   EEG - suppression–burst activity, which evolves into hypsarrhythmia,accentuated during sleep,persists for prolonged periods.  Inborn errors of metabolism mc causes.  >50% die within weeks or months. 6. [slideshare.net]

  In the second stage, patient showed hypsarrhythmia, slow EEG activity with spike-wave anomalies, and mental retardation with no developmental progress. [genome.jp]

  West Syndrome (WS) aka as infantile spasms with hypsarrhythmia, EEG abnormality with asynchronous very high amplitude, irregular, continuous multifocal spike an slow wave discharges. [ijponline.biomedcentral.com]

In severe cases with compatible electro-clinical features we propose a treatment algorithm based on a test trial with high dose intravenous phenytoin followed in case of a positive response by carbamazepine, more suitable for long-term maintenance treatment [ncbi.nlm.nih.gov]

Lachhwani Lippincott Williams & Wilkins, 2006 - 1247 Seiten Thoroughly updated, the Fourth Edition of The Treatment of Epilepsy: Principles and Practice remains the most comprehensive single-volume clinical reference on the epilepsies. [books.google.com]

Prognosis severe. Copyright © Fois; licensee BioMed Central Ltd. 2014 [ijponline.biomedcentral.com]

The author here reports on this patient focusing on the diagnosis and dismal prognosis. [ncbi.nlm.nih.gov]

Prognosis Children have a poor prognosis, experiencing developmental regression, and eventual severe mental retardation. [intechopen.com]

With regard to the etiology, three showed structural abnormalities, two more showed some signs of prenatal origin of neurological disease, and three had metabolic etiology. [ncbi.nlm.nih.gov]

Etiology No clear etiology is found in approximately 40% of cases ( Hrachovy, 2008 & Vigevano, 1992). [intechopen.com]

In this updated article, the authors review the clinical and neurophysiological data, management, and etiologic factors. [medlink.com]

Etiology EIEE may be the result of different etiologies. Many cases have been associated with structural brain abnormalities. [orpha.net]

Particular updates include full coverage of new developments in epidemiology, genetics, classification, imaging, drug therapy and other treatments. [books.google.com]

Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK. Arch. Dis. Child. 1999; 81(5):431-3. PMID: 10519720 Trevathan, E, et al. The descriptive epidemiology of infantile spasms among Atlanta children. [invitae.com]

Relevant External Links for PCDH19 Genetic Association Database (GAD) PCDH19 Human Genome Epidemiology (HuGE) Navigator PCDH19 Atlas of Genetics and Cytogenetics in Oncology and Haematology: PCDH19 No data available for Genatlas for PCDH19 Gene Epilepsy [genecards.org]

Summary Epidemiology Incidence has been estimated at 1/100 000 births in Japan and 1/50,000 births in the U.K. Clinical description Onset of EIEE occurs within the first 3 months of life but some present within the first few weeks after birth. [orpha.net]

Cerebellar atrophy; Congenital ataxia; Early infantile epileptic encephalopathies; Pathophysiology; exome sequencing. [ibrain.univ-tours.fr]

These characteristic changes may lead to the pathophysiology of EIEE. [ncbi.nlm.nih.gov]

Citing Literature Number of times cited according to CrossRef: 33 Laura Gerosa, Maura Francolini, Silvia Bassani and Maria Passafaro, The Role of Protocadherin 19 (PCDH19) in Neurodevelopment and in the Pathophysiology of Early Infantile Epileptic Encephalopathy [dx.doi.org]

Over weeks phenytoin was successfully switched to carbamazepine to prevent seizure relapses associated with difficulty in maintaining proper blood levels of phenytoin. Genetic analysis identified a novel de novo heterozygous mutation (c.[4633A>G]p. [ncbi.nlm.nih.gov]

Much of this research is aimed at increasing scientific understanding of these disorders and finding ways to prevent, treat, and potentially cure them. [web.archive.org]

When EIEE is suspected, rapid and comprehensive genetic testing is critical to starting the child on a therapy that can prevent intractable seizures and severe cognitive dysfunction caused by the disease. [chop.edu]

Prevention No information is available. Genetic counseling might be helpful. 6.6. [intechopen.com]