Schizencephaly

Cortical malformations characterized by grey matter-lined cleft or cyst that extends from the EPENDYMA often to the PIA MATER outer surface. The grey matter that lines the cleft is often POLYMICROGYRIA. It is associated with developmental delay, motor disturbance and seizures.

Also Known As:

Networked: 53 relevant articles (0 outcomes, 2 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Porencephaly
2.	Polymicrogyria
3.	Seizures (Absence Seizure)
4.	Lissencephaly
5.	Malformations of Cortical Development

Experts

1.	Matsumoto, Naomichi: 3 articles (07/2019 - 01/2013)
2.	Miyatake, Satoko: 3 articles (07/2019 - 01/2013)
3.	Saitsu, Hirotomo: 3 articles (03/2017 - 01/2013)
4.	Kato, Mitsuhiro: 2 articles (03/2017 - 01/2013)
5.	Osaka, Hitoshi: 2 articles (01/2015 - 01/2013)
6.	Wada, Takahito: 2 articles (01/2015 - 01/2013)
7.	Adriani Marques, Suelen: 1 article (01/2022)
8.	Blanco Martinez, Ana Maria: 1 article (01/2022)
9.	Bonnefont, Jean-Paul: 1 article (01/2022)
10.	Borges Savoldi, Laura Maria: 1 article (01/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Schizencephaly:

1.	Ephrin-B1 (Ephrin B1)IBA 01/01/2020 - "Conclusion: EFNB1 mutation is considered for a child with schizencephaly, and further study focusing on phenotyping is required to understand the possible contribution of environmental impact and genetic modifier in the expression of EFNB1."
2.	Collagen Type IV (Type IV Collagen)IBA 07/01/2019 - "Recently, germline mutations in collagen type IV alpha 1 (COL4A1) have been reported to be a genetic cause of schizencephaly as a result of prenatal stroke. " 01/01/2015 - "ERRATA: Intracranial Hemorrhage and Tortuosity of Veins Detected on Susceptibility-weighted Imaging of a Child with a Type IV Collagen α1 Mutation and Schizencephaly." 01/01/2015 - "Intracranial Hemorrhage and Tortuosity of Veins Detected on Susceptibility-weighted Imaging of a Child with a Type IV Collagen α1 Mutation and Schizencephaly." 10/01/2023 - "COL4A1/A2 variants affecting the alpha 1 and 2 chains of type IV collagen are increasingly recognized as a cause of fetal and neonatal intracranial hemorrhage, porencephaly, and schizencephaly. "
3.	TeratogensIBA 01/01/2022 - "The exact cause of schizencephaly is not known but genetic disorders, exposure to teratogens, viral infections and maternal age are implicated. " 04/01/2015 - "The causes of schizencephaly are heterogeneous and can include teratogens, prenatal infection, maternal trauma, or EMX2 mutations. " 02/01/2013 - "The causes of schizencephaly are heterogeneous and can include teratogens, prenatal infection, or maternal trauma. " 04/01/2016 - "The causes of schizencephaly are heterogeneous and include teratogens, prenatal infarction/infections, maternal trauma, or EMX2 mutations. "
4.	TubulinIBA 03/01/2015 - "In recent years an increasing number of brain malformations has been associated with mutations in tubulin genes: malformations of cortical development such as lissencephaly and various grades of gyral disorganization, focal or diffuse polymicrogyria and open or closed-lips schizencephaly as likely consequences of an altered neuronal migration process; abnormalities or agenesis of the midline commissural structures (anterior commissure, corpus callosum and fornix), hypoplasia of the oculomotor and optic nerves, dysmorphisms of the hind-brain as expression of axon guidance disorders. " 07/01/2023 - "Recently, mutations in tubulin isotypes (TUBA1A, TUBB, TUBB1, TUBB2A, TUBB2B, TUBB3, and TUBG1) have been linked to cause various neurodevelopmental defects like lissencephaly, microcephaly, cortical dysplasia, polymicrogyria, schizencephaly, subcortical band heterotopia, periventricular heterotopia, corpus callosum agenesis, and cerebellar hypoplasia. "
5.	Proteins (Proteins, Gene)FDA Link 01/01/2017 - "Contactin-associated protein-like (CNTNAP) 2 gene mutation in a patient with bilateral schizencephaly." 07/01/2019 - "Schizencephaly arising from COL4A1 mutations might be a disease prone to these adverse effects because this mutation is known to be associated with venous tortuosity, venous vulnerability, and muscle spasms due to basement membrane protein abnormalities. "
6.	Creatine Kinase (Creatine Phosphokinase)IBA 12/01/2018 - "Mutations in COL4A1 have been reported in schizencephaly and porencephaly combined with microbleeds or calcifications, often associated with ocular and renal abnormalities, myopathy, elevated creatine kinase levels and haemolytic anaemia. " 01/01/2013 - "COL4A1 mutations were identified in 15 patients (21%, 10 mutations in porencephaly and 5 mutations in schizencephaly), who showed a variety of associated findings, including intracranial calcification, focal cortical dysplasia, pontocerebellar atrophy, ocular abnormalities, myopathy, elevated serum creatine kinase levels, and hemolytic anemia. "
7.	Anticonvulsants (Antiepileptic Drugs)IBA 06/01/2007 - "Patients with schizencephaly and polymicrogyria had their seizures more easily controlled by antiepileptic drugs (p<0.001). " 12/01/1996 - "The patients with bilateral schizencephaly associated with other brain malformations were characterized by severe neurologic deficits but were only rarely affected by epilepsy, which was always completely controlled by antiepileptic treatment. "
8.	GAP-43 Protein (GAP 43 Protein)IBA 01/01/2022 - "In order to investigate these issues, we induced both microgyria and schizencephaly in 57 mice and evaluated: their convulsive susceptibility and severity after pentyleneterazol (PTZ) treatment, the quantification of their symmetric and asymmetric synapses, the morphology of their dendritic arbors, and the content of modulators of synaptogenesis, such as SPARC, gephyrin and GAP-43 within the adjacent visual cortex. "
9.	Type A Botulinum Toxins (Botox)FDA Link 11/01/2015 - "Botulinum toxin A injection of UES in schizencephaly with dysphagia: Case report."
10.	Warfarin (Coumadin)FDA LinkGeneric 03/01/1994 - "A case of schizencephaly in a coumadin-exposed fetus is presented. " 03/01/1994 - "Congenital schizencephaly associated with in utero warfarin exposure."

Therapies and Procedures

1.	Drug Therapy (Chemotherapy) 08/01/2012 - "A trial of rational monotherapy or two-drug therapy may be effective, rather than larger-number polytherapy in many cases, more in porencephaly than schizencephaly." 08/01/2012 - "All five patients with schizencephaly had been treated by polytherapy, and three of them had persistent intractable seizures in spite of trying rational monotherapy or two-drug therapy. "
2.	Transcranial Magnetic Stimulation 01/01/2021 - "Motor Organization in Schizencephaly: Outcomes of Transcranial Magnetic Stimulation and Diffusion Tensor Imaging of Motor Tract Projections Correlate with the Different Domains of Hand Function." 08/26/2004 - "We evaluated the hand motor function of a right hemiparetic patient with schizencephaly using a combination of fMRI, transcranial magnetic stimulation, and diffusion tensor tractography (DTT). " 01/01/1997 - "A case of congenital mirror movements occurring in association with mild hemiparesis and unilateral schizencephaly was investigated using focal transcranial magnetic stimulation. " 01/01/2017 - "Functional brain neuroimaging-guided repetitive transcranial magnetic stimulation in neurodevelopmental disorders: The case of a schizencephaly-related spastic dystonia."
3.	Ventriculoperitoneal Shunt 11/01/1999 - "The baby with brain atrophy and schizencephaly had a ventriculoperitoneal shunt placed at 1 month of age and has severe developmental delay at 9 months. " 07/01/1991 - "[Ventriculo-peritoneal shunt in the treatment of schizencephaly with infantile spasm: report of one case]." 10/01/2019 - "We report a rare case of prenatally diagnosed unilateral schizencephaly in a late preterm infant who manifested with rapidly progressive hydrocephalus with massive enlargement of posterior cerebrospinal fluid spaces with tonsillar herniation that was successfully treated with placement of a ventriculoperitoneal shunt." 07/01/2019 - "A 9-month-old boy with schizencephaly and a congenital cataract underwent a ventriculoperitoneal shunt for progressive hydrocephalus. " 07/01/2019 - "Malignant Hyperthermia and Cerebral Venous Sinus Thrombosis After Ventriculoperitoneal Shunt in Infant with Schizencephaly and COL4A1 Mutation."
4.	Split-Brain Procedure (Split-Brain) 04/01/2017 - "Schizencephaly, i.e., split brain, is a rare, congenital cerebral malformation. " 02/01/2008 - "Split brain (schizencephaly)."
5.	Laser Therapy (Surgery, Laser) 01/01/2017 - "Imaging findings were described in the setting of laser therapy in nonlesional epilepsy, mesial temporal sclerosis, dual pathology, periventricular nodular heterotopia, and schizencephaly. "