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SRPX2-related Speech-Epilepsy-Polymicrogyria

SRPX2-related Speech–Epilepsy–Polymicrogyria Boundary (Mendelian) — Research Report

2026-06-11
Falcon Model: Edison Scientific Literature 24 citations

SRPX2-related Speech–Epilepsy–Polymicrogyria Boundary (Mendelian) — Research Report

Executive summary

SRPX2-related disease is a rare X-linked neurodevelopmental disorder spectrum centered on (i) focal (rolandic/centrotemporal) epilepsy, (ii) speech/oromotor dyspraxia and language impairment, and (iii) in some individuals, bilateral perisylvian polymicrogyria (PMG) involving speech-related cortical regions. Current mechanistic understanding places SRPX2 within a FOXP2-regulated network and links SRPX2 dysfunction to abnormal neuronal migration and altered tubulin acetylation, with preclinical evidence that pathway-targeted intervention (tubacin) can prevent downstream epileptiform activity in a rodent developmental model. (rudolf2009fromrolandicepilepsy pages 1-2, roll2010molecularnetworksimplicated pages 1-2, salmi2013tubacinpreventsneuronal pages 1-2)

1. Disease information

1.1 Concise overview

“SRPX2-related Speech–Epilepsy–Polymicrogyria Boundary” refers to a clinical continuum spanning rolandic epilepsy with speech dyspraxia (historically termed RESDX in the cited literature) and more overt perisylvian cortical malformation phenotypes (bilateral perisylvian PMG) with epilepsy and neurodevelopmental impairment. (rudolf2009fromrolandicepilepsy pages 1-2, bernardo2024xlinkedepilepsiesa pages 19-21)

1.2 Key identifiers (as available in retrieved evidence)

Not found in retrieved context: ICD-10/ICD-11 codes, MeSH IDs, and a MONDO term explicitly corresponding to the user’s exact label (“speech-epilepsy-polymicrogyria boundary”).

1.3 Synonyms / alternative names (from evidence)

1.4 Evidence source type

The information summarized here is derived from a mix of: * Aggregated resources: OpenTargets disease–gene associations (OpenTargets Search: -SRPX2) * Primary mechanistic research: FOXP2→SRPX2/uPAR regulation (Human Molecular Genetics, 2010) and rodent in utero silencing/rescue studies (Brain, 2013) (roll2010molecularnetworksimplicated pages 1-2, salmi2013tubacinpreventsneuronal pages 1-2) * Clinical/genetics reviews: epilepsy-aphasia/rolandic spectrum and X-linked PMG gene reviews (2009–2024) (rudolf2009fromrolandicepilepsy pages 1-2, bernardo2024xlinkedepilepsiesa pages 19-21)

2. Etiology

2.1 Disease causal factors

Primary causal factor: pathogenic variation in SRPX2 (X-linked) in a subset of affected families, with phenotypes involving epilepsy and/or structural malformation of speech cortex. The Brain 2013 paper explicitly frames the prior human findings as: “Two missense mutations in the sushi repeat-containing protein SRPX2 had been previously identified in epileptic disorders with or without structural developmental alteration of the speech cortex.” (salmi2013tubacinpreventsneuronal pages 1-2)

Important nuance: the causal role of at least one reported missense variant (p.N327S) has been questioned due to co-inheritance with another missense change in most affected members of that family. (salmi2013tubacinpreventsneuronal pages 2-2)

2.2 Risk factors

  • Genetic risk factor: SRPX2 missense variants reported in two families/case series, including p.N327S (rolandic epilepsy + verbal dyspraxia) and p.Y72S (bilateral perisylvian PMG), as summarized in the Brain 2013 study (which built a rodent model to assess consequences). (salmi2013tubacinpreventsneuronal pages 2-2)
  • Broader X-linked PMG context: A 2024 narrative review places SRPX2 among the most frequently discussed X-linked PMG genes (with DDX3X and SRPX2 highlighted) and states SRPX2 was initially related to “Rolandic seizures, ID, speech delay, oro-facial dyspraxia, and abnormalities in brain speech areas.” (bernardo2024xlinkedepilepsiesa pages 19-21)

Environmental risk factors / protective factors / gene–environment interactions: Not specifically described in the retrieved SRPX2-focused context. (Evidence gap)

3. Phenotypes

3.1 Core phenotypes (qualitative, given limited frequency data in retrieved texts)

Below are key phenotypes supported by the retrieved literature; quantitative penetrance/frequency estimates for SRPX2-specific cohorts were not available in the extracted passages.

1) Speech and language impairment / dyspraxia * Described as speech delay, verbal/oral dyspraxia, and oro-facial dyspraxia, often central to the syndrome designation. (rudolf2009fromrolandicepilepsy pages 1-2, bernardo2024xlinkedepilepsiesa pages 19-21) * Suggested HPO terms (mapping suggestion; not asserted as extracted HPO annotations): * HP:0000750 Speech delay * HP:0002465 Dysarthria * HP:0011445 Oromotor apraxia * HP:0000738 Aphasia / language impairment (broad)

2) Epilepsy (rolandic/centrotemporal focal seizures; spectrum overlap) * SRPX2 is linked to rolandic epilepsy with centrotemporal spikes in the broader rolandic/epilepsy-aphasia spectrum review context. (rudolf2009fromrolandicepilepsy pages 1-2) * Suggested HPO terms: * HP:0001250 Seizures * HP:0002373 Febrile seizures (if present; not established in extracted SRPX2 passages) * HP:0020219 Centrotemporal spikes (EEG) (phenotype representation)

3) Polymicrogyria / bilateral perisylvian polymicrogyria * A disease-associated SRPX2 mutation (Y72) is discussed in the context of “rolandic seizures and bilateral perisylvian polymicrogyria.” (royer2007molecularevolutionof pages 2-3) * Suggested HPO terms: * HP:0002126 Polymicrogyria * HP:0002325 Bilateral perisylvian polymicrogyria

4) Neurodevelopmental impairment / intellectual disability (variable) * A 2009 review states the rolandic epilepsy–speech dyspraxia presentation includes “variable degrees of mental retardation” (historical terminology). (rudolf2009fromrolandicepilepsy pages 1-2) * Suggested HPO terms: * HP:0001249 Intellectual disability * HP:0001263 Global developmental delay

3.2 Age of onset, progression, severity

3.3 Quality-of-life impact

Direct QoL instrument data (EQ-5D/SF-36/PROMIS) were not identified in retrieved evidence; however, the clinical features (speech dyspraxia, epilepsy, PMG) are expected to significantly impact communication and daily functioning. (Evidence gap)

4. Genetic / molecular information

4.1 Causal gene

4.2 Pathogenic variants (from retrieved evidence)

  • SRPX2 p.N327S — reported with rolandic epilepsy and verbal dyspraxia; causality questioned due to co-inheritance of another missense variant in most affected members. (salmi2013tubacinpreventsneuronal pages 2-2)
  • SRPX2 p.Y72S — associated with bilateral perisylvian polymicrogyria; discussed near an evolutionarily interesting residue R75K in structural modeling of a sushi domain. (royer2007molecularevolutionof pages 2-3)

Variant types in evidence: missense variants. (salmi2013tubacinpreventsneuronal pages 2-2)

Population allele frequencies / ClinVar classifications: not available in retrieved context. (Evidence gap)

4.3 Functional consequences

Rodent model evidence supports a loss-of-normal-developmental-function interpretation: * “Wild-type, but not the mutant human SRPX2 proteins, rescued the neuronal migration phenotype caused by Srpx2 silencing in utero” and increased alpha-tubulin acetylation. (salmi2013tubacinpreventsneuronal pages 1-2)

4.4 Modifier genes / epigenetics

Not established for SRPX2 in retrieved context. * A 2024 X-linked epilepsy review emphasizes that “epigenetic regulation and X-chromosome inactivation” can complicate X-linked genotype–phenotype correlations generally, which is relevant to interpreting female carriers, but is not SRPX2-specific evidence in the extracted lines. (bernardo2024xlinkedepilepsiesa pages 22-23)

5. Environmental information

No SRPX2-specific environmental, lifestyle, toxin, or infectious contributors were identified in the retrieved texts. (Evidence gap)

6. Mechanism / pathophysiology

6.1 Current mechanistic concepts

Two complementary mechanistic frames emerge from the retrieved evidence:

A) FOXP2 → SRPX2/uPAR transcriptional network (speech-related gene regulation)

Suggested GO biological process terms (mechanism mapping suggestions): * GO:0006355 regulation of transcription, DNA-templated * GO:0007399 nervous system development

B) Neuronal migration defects and tubulin acetylation (developmental epilepsy mechanism)

The 2013 Brain study provides a causal chain in a developmental rodent model: 1) Trigger: in utero Srpx2 knockdown 2) Upstream cellular process: abnormal neuronal migration during cortical development 3) Biochemical link: altered alpha-tubulin acetylation (wild-type SRPX2 increases acetylation; mutant does not rescue) (salmi2013tubacinpreventsneuronal pages 1-2) 4) Downstream electrophysiology: “spontaneous epileptiform activity” recorded postnatally (salmi2013tubacinpreventsneuronal pages 1-2) 5) Pharmacologic prevention in utero: “The neuronal migration defects and the post-natal epileptic consequences were prevented early in embryos by maternal administration of tubulin deacetylase inhibitor tubacin.” (salmi2013tubacinpreventsneuronal pages 1-2)

Suggested GO terms: * GO:0001764 neuron migration * GO:0000226 microtubule cytoskeleton organization

Suggested cell types (CL term suggestions): * CL:0000540 neuron * CL:0000127 cortical neuron (more specific mapping as appropriate)

6.2 Expert interpretation (authoritative-source synthesis)

A 2024 review of X-linked epilepsies frames SRPX2 as a gene initially linked to rolandic seizures and language/oromotor phenotypes and places it among key X-linked PMG genes, supporting the view that SRPX2 sits at a boundary between functional epilepsy-aphasia phenotypes and structural migration/cortical organization disorders. (bernardo2024xlinkedepilepsiesa pages 19-21)

7. Anatomical structures affected

7.1 Organ/system level

7.2 Tissue/cell level

Suggested UBERON terms (mapping suggestions): * UBERON:0000955 brain * UBERON:0001870 cerebral cortex * UBERON:0002771 frontal lobe operculum / perisylvian cortex (depending on ontology granularity)

8. Temporal development

  • The rolandic epilepsy spectrum is described as childhood-onset with centrotemporal EEG features often activated by sleep/drowsiness (review-level). (rudolf2009fromrolandicepilepsy pages 1-2)
  • The developmental mechanism is prenatal/early developmental: Srpx2 perturbation in utero produces migration defects with later postnatal epileptiform activity in the animal model. (salmi2013tubacinpreventsneuronal pages 1-2)

9. Inheritance and population

9.1 Inheritance

9.2 Epidemiology

No robust SRPX2-specific prevalence/incidence estimates were identified in the retrieved texts.

A relevant background statistic from a 2024 review (X-linked PMG, not SRPX2-specific): epilepsy is observed in approximately 80% of X-linked PMG cases. (bernardo2024xlinkedepilepsiesa pages 19-21)

10. Diagnostics

10.1 Clinical evaluation (real-world implementation)

SRPX2-related phenotypes lie at the intersection of epilepsy-aphasia spectrum and malformations of cortical development, suggesting a practical diagnostic approach: * EEG to identify centrotemporal spikes / focal epileptiform patterns in rolandic epilepsy presentations (review-level). (rudolf2009fromrolandicepilepsy pages 1-2) * Brain MRI to evaluate for bilateral perisylvian polymicrogyria and related cortical malformations where clinically indicated. The SRPX2 disease concept explicitly includes cases “with or without structural developmental alteration of the speech cortex.” (salmi2013tubacinpreventsneuronal pages 1-2)

10.2 Genetic testing

A PMG review recommends exploring genetic testing and notes challenges including de novo variants, mosaicism, and CNVs in PMG broadly; it explicitly includes SRPX2 in a suggested malformations-of-cortical-development gene panel. (james2022thegeneticlandscape pages 7-8)

In practice (inference consistent with review statements), SRPX2 evaluation is typically performed via: * NGS epilepsy and/or malformations-of-cortical-development panels including SRPX2 (james2022thegeneticlandscape pages 7-8) * WES/WGS when phenotype is broader or when panel testing is negative (review-level general recommendation in PMG). (james2022thegeneticlandscape pages 7-8)

10.3 Differential diagnosis (high-level)

Not systematically enumerated in retrieved context; however, SRPX2 sits within the set of genes implicated in PMG and epilepsy-aphasia spectrum. The 2024 X-linked epilepsy review highlights multiple X-linked PMG genes and emerging genes; SRPX2 is discussed among these. (bernardo2024xlinkedepilepsiesa pages 19-21)

11. Outcome / prognosis

SRPX2-specific long-term outcomes, mortality, and validated prognostic factors were not identified in the retrieved context.

Based on syndrome descriptions, disability burden is primarily driven by seizure control, degree of speech/oromotor impairment, and presence/extent of cortical malformation and intellectual disability (review-level). (rudolf2009fromrolandicepilepsy pages 1-2, bernardo2024xlinkedepilepsiesa pages 19-21)

12. Treatment

12.1 Current standard clinical management (real-world)

No SRPX2-specific controlled treatment studies were identified in retrieved texts.

For polymicrogyria broadly, a 2022 review summarizes real-world management as symptomatic: * “The first-line treatment for those with seizures is anti-seizure medications.” (james2022thegeneticlandscape pages 7-8) * Surgical candidacy may depend on lesion laterality/extent: unilateral focal PMG may be considered for resective surgery; bilateral PMG is generally not a good candidate for resection (review-level). (james2022thegeneticlandscape pages 7-8) * Supportive therapies: “Occupational therapy, physiotherapy, and speech therapy may help” some affected individuals. (james2022thegeneticlandscape pages 7-8)

Suggested MAXO terms (mapping suggestions): * MAXO:0000016 antiepileptic drug therapy * MAXO:0000757 speech therapy * MAXO:0000445 occupational therapy

12.2 Experimental / preclinical therapeutics

A key preclinical development is the 2013 Brain study showing in utero prevention of downstream epileptiform activity in a rodent model: * “The neuronal migration defects and the post-natal epileptic consequences were prevented… by maternal administration of tubulin deacetylase inhibitor tubacin.” (salmi2013tubacinpreventsneuronal pages 1-2)

This is not a current human therapy, but it provides mechanistic support for targeting microtubule/tubulin acetylation pathways in SRPX2-related developmental epilepsy mechanisms.

13. Prevention

No established primary prevention exists beyond genetic counseling for families.

For PMG broadly, the 2022 review highlights the importance of genetic testing and counseling and notes that risk assessment depends on inheritance and the identified cause. (james2022thegeneticlandscape pages 7-8)

14. Other species / natural disease

No naturally occurring SRPX2-related disease in other species was identified in the retrieved context.

15. Model organisms

A mechanistically informative rat in utero gene-silencing model exists: * Srpx2 silencing in utero produces neuronal migration defects and postnatal epileptiform activity, with rescue by wild-type human SRPX2 but not mutant SRPX2; tubacin prevents defects and epileptiform outcomes. (salmi2013tubacinpreventsneuronal pages 1-2)

2023–2024 “latest research” highlights (within retrieved evidence)

  • 2024 (International Journal of Molecular Sciences; published Apr 2024; DOI: 10.3390/ijms25074110): SRPX2 highlighted among principal X-linked PMG genes and linked to rolandic seizures, ID, speech delay, and orofacial dyspraxia. Provides review-level consolidation of SRPX2 positioning in X-linked PMG/epilepsy gene landscape. (bernardo2024xlinkedepilepsiesa pages 19-21)
  • 2023 (International Journal of Developmental Neuroscience; published Aug 2023; DOI: 10.1002/jdn.10290): broader context review on X-linked neuronal migration disorders, emphasizing limited epidemiologic data for neuronal migration disorders and the contribution of cortical malformations to refractory epilepsy. (edey2023x‐linkedneuronalmigration pages 5-6)

Limitation: No 2023–2024 primary SRPX2 case series or variant reclassification papers were successfully retrieved in the current tool run; therefore, recent patient counts, novel variants, and modern ACMG/ClinVar interpretations are not included here.

Structured summary table

Table (click to expand)
Topic Summary Publication / year PMID / identifier(s) URL Citation
Disease names / synonyms / identifiers Evidence supports the SRPX2-associated disease spectrum including Rolandic epilepsy–speech dyspraxia / RESDX / rolandic epilepsy-speech dyspraxia syndrome and bilateral perisylvian polymicrogyria (BPP) / congenital bilateral perisylvian syndrome. OMIM numbers explicitly mentioned for SRPX2 (OMIM 300642), Rolandic epilepsy–speech dyspraxia (OMIM 300643), and bilateral perisylvian polymicrogyria (OMIM 300388). Open Targets context lists MONDO_0015587 rolandic epilepsy-speech dyspraxia syndrome and Orphanet 163721 Rolandic epilepsy - speech dyspraxia. Hum Mol Genet 2010; Open Targets context; IJMS review 2024 PMID not shown in context for 2010 paper; MONDO_0015587; Orphanet 163721; OMIM 300642/300643/300388 https://doi.org/10.1093/hmg/ddq415 (roll2010molecularnetworksimplicated pages 1-2, OpenTargets Search: -SRPX2, bernardo2024xlinkedepilepsiesa pages 19-21)
Inheritance Reported as an X-linked syndrome for SRPX2-related RESDX; females may show milder or variable manifestations, plausibly influenced by skewed X-inactivation. PMG literature notes familial PMG can be autosomal dominant, autosomal recessive, or X-linked, but the SRPX2 disorder specifically is X-linked in the cited syndrome reports. Epilepsia 2009; IJMS review 2024; PMG review 2022 PMID not shown in context https://doi.org/10.1111/j.1528-1167.2009.02214.x ; https://doi.org/10.3390/ijms25074110 ; https://doi.org/10.4103/aian.aian_97_22 (rudolf2009fromrolandicepilepsy pages 1-2, bernardo2024xlinkedepilepsiesa pages 19-21, james2022thegeneticlandscape pages 7-8)
Core phenotype: speech / oromotor Recurrent phenotypes across reports/reviews include speech delay, verbal/oral dyspraxia, oro-facial dyspraxia, and language-cortex dysfunction. These features are central to the named syndrome and often accompany epilepsy; intellectual disability may be variable. Epilepsia 2009; IJMS review 2024 PMID not shown in context https://doi.org/10.1111/j.1528-1167.2009.02214.x ; https://doi.org/10.3390/ijms25074110 (rudolf2009fromrolandicepilepsy pages 1-2, bernardo2024xlinkedepilepsiesa pages 19-21)
Core phenotype: epilepsy Seizures are typically rolandic/centrotemporal in the classic syndrome. Reviews connect SRPX2 to focal epilepsies of the rolandic/sylvian speech areas. In X-linked PMG broadly, epilepsy is observed in ~80% of cases. Epilepsia 2009; IJMS review 2024 PMID not shown in context https://doi.org/10.1111/j.1528-1167.2009.02214.x ; https://doi.org/10.3390/ijms25074110 (rudolf2009fromrolandicepilepsy pages 1-2, bernardo2024xlinkedepilepsiesa pages 19-21)
Core phenotype: cortical malformation SRPX2 is also linked to bilateral perisylvian polymicrogyria, a developmental malformation of the speech cortex; reviews note SRPX2 among the principal X-linked PMG genes. BMC Genet 2007; IJMS review 2024; PMG review 2022 PMID not shown in context https://doi.org/10.1186/1471-2156-8-72 ; https://doi.org/10.3390/ijms25074110 ; https://doi.org/10.4103/aian.aian_97_22 (royer2007molecularevolutionof pages 2-3, bernardo2024xlinkedepilepsiesa pages 19-21, james2022thegeneticlandscape pages 7-8)
Key SRPX2 variants Two historically emphasized missense variants are p.N327S (reported with rolandic epilepsy and verbal dyspraxia) and p.Y72S (reported with bilateral perisylvian polymicrogyria / rolandic seizures). The 2013 Brain study notes that the direct causal role of p.N327S has been questioned because of co-inheritance of another missense variant in most affected members. Brain 2013; BMC Genet 2007 PMID not shown in context https://doi.org/10.1093/brain/awt161 ; https://doi.org/10.1186/1471-2156-8-72 (salmi2013tubacinpreventsneuronal pages 2-2, royer2007molecularevolutionof pages 2-3, salmi2013tubacinpreventsneuronal pages 1-2)
FOXP2 network variants (mechanistic context) FOXP2 p.R553H abolishes repression/binding effects on SRPX2/uPAR regulatory sites; FOXP2 p.M406T causes partial loss of nuclear localization and significant loss of SRPX2 promoter repression. These FOXP2 variants are mechanistic network findings rather than primary SRPX2 disease alleles. Hum Mol Genet 2010 PMID not shown in context https://doi.org/10.1093/hmg/ddq415 (roll2010molecularnetworksimplicated pages 7-9, roll2010molecularnetworksimplicated pages 5-7, roll2010molecularnetworksimplicated pages 1-2)
Mechanism: FOXP2 represses SRPX2/uPAR FOXP2 directly down-regulates SRPX2 and uPAR; reported quantitative effects include 43.6% reduction of SRPX2 transcripts, 38.6% reduction of uPAR transcripts, and inhibition of SRPX2 and uPAR promoter activity by about 80.2% and 77.5%, respectively. This supports a FOXP2→SRPX2/uPAR speech-disorder network. Hum Mol Genet 2010 PMID not shown in context https://doi.org/10.1093/hmg/ddq415 (roll2010molecularnetworksimplicated pages 1-2)
Mechanism: neuronal migration / tubulin acetylation In utero Srpx2 silencing in rat cortex causes neuronal migration defects and later spontaneous epileptiform activity. Wild-type, but not mutant, human SRPX2 rescues the migration phenotype and increases alpha-tubulin acetylation, linking SRPX2 dysfunction to cortical development. Brain 2013 PMID not shown in context https://doi.org/10.1093/brain/awt161 (salmi2013tubacinpreventsneuronal pages 1-2)
Mechanism / experimental rescue Maternal treatment with the tubulin deacetylase inhibitor tubacin prevented both the migration abnormalities and postnatal epileptiform consequences in the rat model, providing proof-of-principle for pathway-targeted rescue in a developmental model. This remains preclinical, not a human standard of care. Brain 2013 PMID not shown in context https://doi.org/10.1093/brain/awt161 (salmi2013tubacinpreventsneuronal pages 1-2, salmi2013tubacinpreventsneuronal pages 2-2)
Recent review perspective (2023–2024) Recent reviews continue to place SRPX2 among important X-linked PMG and X-linked epilepsy genes. The 2024 review states SRPX2 was initially related to Rolandic seizures, ID, speech delay, oro-facial dyspraxia, and abnormalities in brain speech areas; the 2023 review discusses X-linked neuronal migration disorders and emphasizes limited epidemiologic data overall. Int J Mol Sci 2024; Int J Dev Neurosci 2023 PMID not shown in context https://doi.org/10.3390/ijms25074110 ; https://doi.org/10.1002/jdn.10290 (bernardo2024xlinkedepilepsiesa pages 19-21, edey2023x‐linkedneuronalmigration pages 5-6)

Table: This table condenses the main disease names, identifiers, inheritance, phenotypes, variants, mechanisms, and key quantitative findings for the SRPX2-related speech-epilepsy-polymicrogyria spectrum. It is designed as a quick reference for integrating evidence from primary and recent review sources.

References (URLs in-text)

Primary and review sources used in this report are those retrieved in the current run and cited by context ID throughout (pqac-...). Key URLs include: * Roll et al., Human Molecular Genetics (Dec 2010): https://doi.org/10.1093/hmg/ddq415 (roll2010molecularnetworksimplicated pages 1-2) * Salmi et al., Brain (Aug 2013): https://doi.org/10.1093/brain/awt161 (salmi2013tubacinpreventsneuronal pages 1-2) * Bernardo et al., Int J Mol Sci (Apr 2024): https://doi.org/10.3390/ijms25074110 (bernardo2024xlinkedepilepsiesa pages 19-21) * James et al., Ann Indian Acad Neurol (Jul–Aug 2022): https://doi.org/10.4103/aian.aian_97_22 (james2022thegeneticlandscape pages 7-8) * Rudolf et al., Epilepsia (Aug 2009): https://doi.org/10.1111/j.1528-1167.2009.02214.x (rudolf2009fromrolandicepilepsy pages 1-2) * OpenTargets SRPX2 associations (accessed via tool): (OpenTargets Search: -SRPX2)

References

  1. (rudolf2009fromrolandicepilepsy pages 1-2): Gabrielle Rudolf, Maria P. Valenti, Edouard Hirsch, and Pierre Szepetowski. From rolandic epilepsy to continuous spike‐and‐waves during sleep and landau‐kleffner syndromes: insights into possible genetic factors. Epilepsia, 50:25-28, Aug 2009. URL: https://doi.org/10.1111/j.1528-1167.2009.02214.x, doi:10.1111/j.1528-1167.2009.02214.x. This article has 108 citations and is from a domain leading peer-reviewed journal.

  2. (roll2010molecularnetworksimplicated pages 1-2): Patrice Roll, Sonja C. Vernes, Nadine Bruneau, Jennifer Cillario, Magali Ponsole-Lenfant, Annick Massacrier, Gabrielle Rudolf, Manal Khalife, Edouard Hirsch, Simon E. Fisher, and Pierre Szepetowski. Molecular networks implicated in speech-related disorders: foxp2 regulates the srpx2/upar complex. Human molecular genetics, 19 24:4848-60, Dec 2010. URL: https://doi.org/10.1093/hmg/ddq415, doi:10.1093/hmg/ddq415. This article has 132 citations and is from a domain leading peer-reviewed journal.

  3. (salmi2013tubacinpreventsneuronal pages 1-2): Manal Salmi, Nadine Bruneau, Jennifer Cillario, Natalia Lozovaya, Annick Massacrier, Emmanuelle Buhler, Robin Cloarec, Timur Tsintsadze, Françoise Watrin, Vera Tsintsadze, Céline Zimmer, Claude Villard, Daniel Lafitte, Carlos Cardoso, Lan Bao, Gaetan Lesca, Gabrielle Rudolf, Françoise Muscatelli, Vanessa Pauly, Ilgam Khalilov, Pascale Durbec, Yehezkel Ben-Ari, Nail Burnashev, Alfonso Represa, and Pierre Szepetowski. Tubacin prevents neuronal migration defects and epileptic activity caused by rat srpx2 silencing in utero. Brain : a journal of neurology, 136 Pt 8:2457-73, Aug 2013. URL: https://doi.org/10.1093/brain/awt161, doi:10.1093/brain/awt161. This article has 66 citations.

  4. (bernardo2024xlinkedepilepsiesa pages 19-21): Pia Bernardo, Claudia Cuccurullo, Marica Rubino, Gabriella De Vita, Gaetano Terrone, Leonilda Bilo, and Antonietta Coppola. X-linked epilepsies: a narrative review. International Journal of Molecular Sciences, 25:4110, Apr 2024. URL: https://doi.org/10.3390/ijms25074110, doi:10.3390/ijms25074110. This article has 14 citations.

  5. (OpenTargets Search: -SRPX2): Open Targets Query (-SRPX2, 5 results). Buniello, A. et al. (2025). Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery. Nucleic Acids Research.

  6. (royer2007molecularevolutionof pages 2-3): Barbara Royer, Dinesh C Soares, Paul N Barlow, Ronald E Bontrop, Patrice Roll, Andrée Robaglia-Schlupp, Antoine Blancher, Anthony Levasseur, Pierre Cau, Pierre Pontarotti, and Pierre Szepetowski. Molecular evolution of the human srpx2 gene that causes brain disorders of the rolandic and sylvian speech areas. BMC Genetics, 8:72-72, Oct 2007. URL: https://doi.org/10.1186/1471-2156-8-72, doi:10.1186/1471-2156-8-72. This article has 36 citations.

  7. (salmi2013tubacinpreventsneuronal pages 2-2): Manal Salmi, Nadine Bruneau, Jennifer Cillario, Natalia Lozovaya, Annick Massacrier, Emmanuelle Buhler, Robin Cloarec, Timur Tsintsadze, Françoise Watrin, Vera Tsintsadze, Céline Zimmer, Claude Villard, Daniel Lafitte, Carlos Cardoso, Lan Bao, Gaetan Lesca, Gabrielle Rudolf, Françoise Muscatelli, Vanessa Pauly, Ilgam Khalilov, Pascale Durbec, Yehezkel Ben-Ari, Nail Burnashev, Alfonso Represa, and Pierre Szepetowski. Tubacin prevents neuronal migration defects and epileptic activity caused by rat srpx2 silencing in utero. Brain : a journal of neurology, 136 Pt 8:2457-73, Aug 2013. URL: https://doi.org/10.1093/brain/awt161, doi:10.1093/brain/awt161. This article has 66 citations.

  8. (bernardo2024xlinkedepilepsiesa pages 22-23): Pia Bernardo, Claudia Cuccurullo, Marica Rubino, Gabriella De Vita, Gaetano Terrone, Leonilda Bilo, and Antonietta Coppola. X-linked epilepsies: a narrative review. International Journal of Molecular Sciences, 25:4110, Apr 2024. URL: https://doi.org/10.3390/ijms25074110, doi:10.3390/ijms25074110. This article has 14 citations.

  9. (roll2010molecularnetworksimplicated pages 5-7): Patrice Roll, Sonja C. Vernes, Nadine Bruneau, Jennifer Cillario, Magali Ponsole-Lenfant, Annick Massacrier, Gabrielle Rudolf, Manal Khalife, Edouard Hirsch, Simon E. Fisher, and Pierre Szepetowski. Molecular networks implicated in speech-related disorders: foxp2 regulates the srpx2/upar complex. Human molecular genetics, 19 24:4848-60, Dec 2010. URL: https://doi.org/10.1093/hmg/ddq415, doi:10.1093/hmg/ddq415. This article has 132 citations and is from a domain leading peer-reviewed journal.

  10. (roll2010molecularnetworksimplicated pages 7-9): Patrice Roll, Sonja C. Vernes, Nadine Bruneau, Jennifer Cillario, Magali Ponsole-Lenfant, Annick Massacrier, Gabrielle Rudolf, Manal Khalife, Edouard Hirsch, Simon E. Fisher, and Pierre Szepetowski. Molecular networks implicated in speech-related disorders: foxp2 regulates the srpx2/upar complex. Human molecular genetics, 19 24:4848-60, Dec 2010. URL: https://doi.org/10.1093/hmg/ddq415, doi:10.1093/hmg/ddq415. This article has 132 citations and is from a domain leading peer-reviewed journal.

  11. (james2022thegeneticlandscape pages 7-8): Jesmy James, Mary Iype, Mithran Omana Surendran, Ayyappan Anitha, and Sanjeev V. Thomas. The genetic landscape of polymicrogyria. Jul 2022. URL: https://doi.org/10.4103/aian.aian_97_22, doi:10.4103/aian.aian_97_22. This article has 14 citations and is from a peer-reviewed journal.

  12. (edey2023x‐linkedneuronalmigration pages 5-6): Juliet Edey, Payam Soleimani‐Nouri, Amelia Dawson‐Kavanagh, Muhamad Saad Imran Azeem, and Vasso Episkopou. X‐linked neuronal migration disorders: gender differences and insights for genetic screening. International Journal of Developmental Neuroscience, 83:581-599, Aug 2023. URL: https://doi.org/10.1002/jdn.10290, doi:10.1002/jdn.10290. This article has 10 citations and is from a peer-reviewed journal.

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